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Found 41 results

  1. Celiac.com 09/05/2018 - About one out of every twenty celiac patients fails to respond to a gluten-free diet, and goes on to develop refractory celiac disease (RCD). RCD is a serious condition marked by appearance of intraepithelial T lymphocytes. Depending on the phenotype of the lymphocytes, people develop either RCD I or RCD II. Patients with RCD type II (RCDII) show clonal expansions of intraepithelial T lymphocytes, and face an especially poor prognosis. Just over half of these patients will die within five years of onset due to aggressive enteropathy-associated T-cell lymphoma. At this time, researchers don’t know whether genetic variations might play a role in the severe progression from celiac disease to RCDII. A team of researchers recently set out to try to get some answers. The team began by conducting the first genome-wide association study to identify the causal genes for RCDII, along with the molecular pathways at play in cases of RCDII. For their genome-wide association study, the team used 38 Dutch patients with RCDII, and replicated the 15 independent top-associated single nucleotide polymorphism (SNP) variants (P<5×10) in 56 independent French and Dutch patients with RCDII. The team found that, after replication, SNP rs2041570 on chromosome 7 was significantly associated with progression to RCDII (P=2.37×10, odds ratio=2.36), but not to celiac disease susceptibility. They also found that SNP rs2041570 risk allele A was associated with lower levels of FAM188B expression in blood and small intestinal biopsies. Stratifying RCDII biopsies by rs2041570 genotype revealed differential expression of innate immune and antibacterial genes that are expressed in Paneth cells. The team’s efforts resulted in the identification of a new SNP associated with the severe progression of celiac disease to RCDII. Their data suggest that genetic susceptibility to celiac disease might be unrelated to celiac progression to RCDII, and suggests that Paneth cells might play a role in RCDII progression. Source: Eur J Gastroenterol Hepatol. 2018 Aug;30(8):828-837. The research team included B Hrdlickova, CJ Mulder, G Malamut, B Meresse, M Platteel, Y Kamatani, I Ricaño-Ponce, RLJ van Wanrooij, MM Zorro, M Jan Bonder, J Gutierrez-Achury, C Cellier, A Zhernakova, P Nijeboer, P Galan, S Withoff, M Lathrop, G Bouma, RJ Xavier, B Jabri, NC Bensussan, C Wijmenga, and V Kumar. They are variously affiliated with the Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Department of Gastroenterology, VUMC, Amsterdam, The Netherlands, INSERM U1163, Imagine Institute and Paris Descartes University, the Department of Gastroeneterology, Georges Pompidou European Hospital, the Paris 13 University Sorbonne Paris Cité, UREN, Inserm (U557), Inra (U1125), Cnam, Bobigny, France, the scientific director of McGill University and Génome Québec Innovation Centre, Montréal, Québec, Canada, the Gastrointestinal Unit and Center for the Study of Inflammatory Bowel Disease, Massachusetts General Hospital and Harvard Medical School, Boston, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, the Department of Medicine, University of Chicago, Chicago, Illinois, USA., and the K.G. Jebsen Coeliac Disease Research Centre, Department of Immunology, University of Oslo, Norway.
  2. Hi, it's me again. A quick question for you guys! Im waiting to see a gastro in June, but as symptoms have been almost unbearable, i decided to do a DNA test in the interim to see if I had the hladq2 or hladq8 markers. Got the results back a couple days ago, and i have neither of those markers, and have been told i have a low risk of developing the disease. What I would like to know is this, can you test negative for the dq2/dq8 markers and still go on to develop celiac disease? Any thoughts, opinions etc would be very appreciated! Thank you
  3. Celiac.com 04/24/2008 - Genetic tests for celiac disease and gluten sensitivity are readily available. Testing can be performed on either blood and mouth swab samples. If the testing is performed by certain laboratories not only will you have quite an accurate prediction of your risk of Celiac disease but also you may have information about the statistical probability that your children will inherit the risk, your likelihood of more severe Celiac disease, whether one or both of your parents had the risk gene, and for some laboratories you may determine your risk of gluten sensitivity without Celiac disease. The absence of any portion of the high-risk genetic patterns DQ2 and DQ8 nearly excludes the possibility of celiac disease with an approximate accuracy of 99.9%. However, there is a big caveat about relying on "negative celiac genetic testing". To definitively declare you have negative celiac genetic tests requires that the laboratory test for and report the presence or absence of the entire HLA DQ genetic pattern, including both alpha and beta subunits. The DQ genetic patterns DQ2 and DQ8 have two subunits but some laboratories only test for the beta subunit. This DQ typing is complicated and difficult to understand even by physicians and scientists. I have written an updated detailed review that appears in the Spring 2008 issue of Scott-Free newsletter published by celiac.com. Data collected by Dr. Ken Fine of Enterolab has supported the well-known fact that the absence of DQ2 and DQ8 does not exclude the risk of being gluten intolerance or sensitive though it now generally believed that one or both of those genetic white blood cell patterns are required to develop the autoimmune disorder known as Celiac disease or Celiac Sprue. However, there is a new study that reports that being negative for DQ2 and DQ8 does not completely exclude the possibility of celiac disease, especially in men. Previous studies have well documented blood test negative Celiac Sprue, also more common in elderly men with long-standing severe disease. Since DQ2 or DQ8 is almost universally present with the specific blood tests tissue transglutaminase and anti-endomysial antibodies are present it is not surprising that individuals without DQ2 or DQ8 that are negative for these two blood tests are being reported that meet criteria for Celiac disease. These new studies are also providing further information that the genetics of Celiac is gender specific. If you are a man, your risk of celiac disease may be higher than a woman if you don't have the classic genetic patterns. Again, in this situation your blood tests may be negative. If you are a woman, the risk for Celiac disease is generally higher than a man, especially if you have received the at risk gene from your father instead of your mother. Celiac is arguably the most common autoimmune disease. It is very common. It is easily treated. It affects 1/100 people worldwide. However, most people with celiac disease (~90%) are unaware, undiagnosed or misdiagnosed. Most adults finally diagnosed with celiac disease have suffered at least 10-11 years and have seen more than 3 or more doctors. Genetic testing is not only available but can be extremely helpful in determining your risk of developing Celiac disease, how severe it may be and the risk of your family members. Don't be one of those whose diagnosis is missed or needlessly delayed for over a decade. Get tested! Learn about the genetic tests for Celiac disease and if necessary educate your doctor about this testing. Here are ten facts you should know and remember about Celiac genetic testing. Genetic testing can help determine your risk as well as your children's risk. Celiac genetic tests can be done on blood or a mouth swab sample but your doctor may be unaware of the tests, not know how to order them, or know how to interpret the results. Genetic testing is not affected by diet. You can be eating gluten or on a gluten free diet. Blood tests for celiac disease antibodies, however, need to be done while eating gluten. They can become negative within a few weeks of restricting gluten so if you are going to get the diagnostic antibody blood tests don't begin a gluten free or restricted diet before being tested. Some insurance companies do not for the Celiac genetic test and almost all who do require pre-authorization first. The following diagnostic codes are helpful when requesting insurance coverage: 579.0 (Celiac disease); V18.59 (family history of GI disease); and/or V84.89 (genetic susceptibility to disease). Some laboratories do not perform the all of the necessary components of the test to completely exclude the possible genetic risk of Celiac disease and most don't test for or report the other gluten sensitive DQ patterns. Before you accept that have a negative test you need to know if your test included both the alpha and beta subunits of HLA DQ or did they just perform the beta typing. In some rare individuals, especially some men, a negative genetic test may not exclude the possibility of celiac disease anymore than a negative blood test. Men more commonly have negative genetic tests and blood tests, especially older men with long-standing severe disease. Both the DQ type, and number of copies you have, matter when determining not only your risk but also the possible severity of celiac disease. Two copies of DQ2 carries more risk than one copy of DQ8 or only partial DQ2. Even a single copy of DQ2 alpha subunit ("half DQ2 positive") carries risk for celiac disease but most of the commonly used laboratories for Celiac genetics do not test for or report the presence of this component of the celiac genes. The absence of at risk genes DQ2 and/or DQ8 does not exclude the possibility of being gluten intolerant or sensitive. You may respond to a gluten free diet even if you don't have DQ2 or DQ8 or true autoimmune Celiac disease. You can get genetic testing without a doctor's order and the tests can be done without having blood drawn or insurance authorization if you are willing to pay between $150-400 (www.kimballgenetics.com and www.enterolab.com). Laboratories in the U.S. that are known to offer complete alpha and beta subunit genetic testing include Kimball Genetics, Prometheus, and LabCorp. Bonfils, Quest and Enterolab only test for the beta subunit portions and therefore their test can miss part of a minor alpha subunit that carries a risk of Celiac disease. A negative DQ2 and DQ8 report from these labs may not necessarily be truly negative for the risk of Celiac disease. References and Resources: HLA-DQ and Susceptibility to Celiac Disease: Evidence for Gender Differences and Parent-of-Origin Effects. Megiorni F et al. Am Journal Gastroenterol. 2008;103:997-1003. Celiac Genetics. Dr. Scot Lewey. Scott-Free, Spring 2008.
  4. Celiac.com 02/28/2018 - In an effort to discover more genes that trigger type 1 diabetes, a team of researchers recently conducted a large, prospective study of children at risk for type 1 diabetes. The end goal is to reveal more targets for treating or even preventing the disease. The research team included A Sharma, X Liu, D Hadley, W Hagopian, WM Chen, S Onengut-Gumuscu, C Törn, AK Steck, BI Frohnert, M Rewers, AG Ziegler, Å Lernmark, J Toppari, JP Krischer, B Akolkar, SS Rich, JX She; and TEDDY Study Group. The team identified six new chromosomal regions in young people who have already developed type 1 diabetes, or who have started making antibodies against their insulin-producing cells, often a step toward full-blown diabetes that requires lifelong insulin therapy. Their analysis of 5,806 individuals, which is published in the Journal of Autoimmunity, also confirms three regions already associated with one of those related conditions. The team observed two top autoantibodies. The first, called IAA, acts directly against insulin. The second, called GADA, acts against the enzyme glutamate decarboxylase, which regulates the insulin-producing beta cells in the pancreas. According to Dr. She, about 90 percent of patients with type 1 diabetes start with one of the autoantibodies, and many patients eventually end up with both. The second autoantibody may surface in a few days or even years later. They began this study with 176,586 SNPs, or single nucleotide polymorphisms. Nucleotides are basic building blocks of our genetic information. According to Sharma, the SNPs evaluated by TEDDY scientists were already linked with other autoimmune conditions like rheumatoid arthritis or celiac disease, but not type 1 diabetes. The researchers figured out which of these SNPs are different in TEDDY participants with type 1 diabetes versus those with Islet cell autoantibodies versus those with neither. Previous research has shown that the genes associated with IA and actual type 1 diabetes can differ. Dr. She says that even though clinicians regard Islet cell autoantibodies (IA) as a red flag for type 1 diabetes, not every child with IA goes on to develop diabetes, though multiple autoantibodies definitely increase that risk. The team notes that it is possible that the genes that promote IA development may differ from those that lead to full-blown disease progression. She says that this is the first study of gene identification for any disease to use this sort of longitudinal information. She add that this and other studies by the TEDDY research group help to clarify the search for important non-HLA genes by adding the "time to disease" perspective. Source: J Autoimmun. 2018 Jan 5. pii: S0896-8411(17)30739-4. doi: 10.1016/j.jaut.2017.12.008. The researchers are variously affiliated with the Center for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta University, Augusta, GA, USA; Division of Biostatistics and Data Science, Department of Population Health Sciences, Medical College of Georgia, Augusta University, Augusta, GA, US; the Health Informatics Institute, Morsani College of Medicine, University of South Florida, Tampa, FL, USA; the Division of Population Health Sciences and Education, St George's University of London, London, United Kingdom; the Pacific Northwest Research Institute, Seattle, WA, USA; the Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA; the Department of Clinical Sciences, Lund University/CRC, Malmö, Sweden; the Barbara Davis Center for Childhood Diabetes, University of Colorado, Denver, Aurora, CO, USA; the Institute of Diabetes Research, Helmholtz Zentrum München, Munich-Neuherberg, Germany; Klinikum rechts der Isar, Technische Universität München, Munich-Neuherberg, Germany; Forschergruppe Diabetes e.V., Munich-Neuherberg, Germany; the Department of Pediatrics, Turku University Hospital, Turku, Finland; the National Institutes of Diabetes and Digestive and Kidney Disorders, National Institutes of Health, Bethesda, MD, USA; and the Center for Biotechnology and Genomic Medicine, Medical College of Georgia, Augusta University, Augusta, GA, USA.
  5. I was wondering if anyone has ancestors from the present-day region of Alsace, France, or near there, who had celiac disease on that side of the family? This condition and related ones (diabetes) are common in my family on this side. I have traced it up the family tree and am wondering for research purposes.
  6. Celiac.com 06/15/2017 - Enteropathy-associated T cell lymphoma (EATL) subtypes are characterized by loss of function of SETD2. Although EATL is rare condition, it is deadly. It is also the most common neoplastic complication of celiac disease. A team of researchers recently conducted whole-exome sequencing of 69 EATL tumors, which helped them to define the genetic landscape of EATL. They found that SETD2 was silenced in 32% of EATL patients, making it the most frequently silenced gene in EATL. The research team included AB Moffitt, SL Ondrejka, M McKinney, RE Rempel, JR Goodlad, CH Teh, S Leppa, S Mannisto, PE Kovanen, E Tse, RKH Au-Yeung, YL Kwong, G Srivastava, J Iqbal, J Yu, K Naresh, D Villa, RD Gascoyne, J Said, MB Czader, A Chadburn, KL Richards, D Rajagopalan, NS Davis, EC Smith, BC Palus, TJ Tzeng, JA Healy, PL Lugar, J Datta, C Love, S Levy, DB Dunson, Y Zhuang, ED Hsi, and SS Dave. The team also noted that the JAK-STAT pathway was the most frequently mutated pathway, with frequent mutations in STAT5B as well as JAK1, JAK3, STAT3, and SOCS1, and that the condition causes highly overlapping genetic alterations among the mutations in KRAS, TP53, and TERT Type I EATL and type II EATL (monomorphic epitheliotropic intestinal T cell lymphoma), which indicates shared mechanisms underlying their causes. To model the effects of SETD2 loss in vivo, the team developed a T cell-specific knockout mouse. These mice manifested an expansion of γδ T cells, indicating novel roles for SETD2 in T cell development and lymphomagenesis. The team's data provides the most comprehensive genetic portrait to date of this rare, but deadly disease, and will likely play a key role in future classifications of EATL. Source: J Exp Med. 2017 May 1;214(5):1371-1386. doi: 10.1084/jem.20160894. Epub 2017 Apr 19. The researchers are variously affiliated with the Duke Center for Genomics and Computational Biology, Duke University, Durham, NC, the Duke Cancer Institute, Duke University School of Medicine, Durham, NC, the Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, the Haematological Malignancy Diagnostic Service, St. James's University Hospital, Leeds LS9 7TF, England, UK, the Haematology Department, Western General Hospital, Edinburgh, Scotland, UK, the Department of Oncology and Research Program Unit, Faculty of Medicine, Helsinki University Hospital Cancer Center and University of Helsinki in Helsinki, Finland, HUSLAB and Medicum, Helsinki University Hospital Cancer Center and University of Helsinki, Helsinki, Finland, the University of Hong Kong, Queen Mary Hospital, Hong Kong, China, the University of Nebraska Medical Center, Omaha, NE, Imperial College London, London, England, UK, the British Columbia Cancer Agency, University of British Columbia, Vancouver, BC, Canada, the University of California, Los Angeles, Los Angeles, CA, Indiana University, Indianapolis, IN, the Presbyterian Hospital, Pathology and Cell Biology, Cornell University, New York, NY, the University of North Carolina at Chapel Hill, Chapel Hill, NC, the Department of Medicine, Duke University School of Medicine, Durham, NC, the Department of Statistical Science, Duke University, Durham, NC, the Hudson Alpha Institute for Biotechnology, Huntsville, AL 35806, and the Department of Immunology, Duke University School of Medicine, Durham, NC.
  7. My husband just recently got diagnosed with celiac's disease we are wondering if we should get our son tested to see if he carries the gene I guess you would say. Any advice would be greatly appreciated as a lot of you, I have no one else to talk to about it thanks
  8. Hi everyone, just wanting your opinion on whether you think my 9 yr old son could be coeliac. He started vomiting about 5 weeks ago and complaining of a sore tummy. First doctor said constipation and told him to drink some water. 2nd doctor ordered bloods and coeliac screen. Results CLINICAL NOTES: IMMUNOLOGY SPECIMEN: SERUM COELIAC DISEASE ANTIBODIES REFERENCE RANGES Normal Low Mod. Strong Deamidated Gliadin IgG * 24 CU (< 20) (20-50) (51-80) (> 80) Tissue Transglutaminase IgA * 24 CU (< 20) (20-50) (51-80) (> 80) INTERPRETATION Low level of tissue transglutaminase antibodies of uncertain clinical significance. RECOMMENDATIONS If clinical suspicion remains high, tests on a fresh blood sample for HLA DQ2/DQ8 are recommended. Negative DQ2/DQ8 virtually excludes coeliac disease. If DQ2/DQ8 positive, small bowel biopsy may be required. They are calling this low positive. We had tested genes and while waiting for results my son got very sick and was admitted to hospital for an inflamed large bowel which they then attributed to him having clampobacyter. They then said all his symptoms and possibly the coeliac screen results were because of this bug even though his symptoms started 3 1/2 weeks before he got sick with the bug. They sent us home and and said he'd get better. 2 days later I drove him to our closest city to another hospital as he couldn't stop throwing up and they admitted him again. They finally agreed after discussions with 3 c different departments and infectious diseases that the bug was not the cause of his existing symptoms but are still reluctant to look at coeliac even though his gene test came back positive for 2 genes. They have tentatively diagnosed him with gastro paresis as he is vomiting up to 11 times a day. He is pale, has dark circles under his eyes and complains of constant tummy pain that increases at times during g the day. I guess I'm just wondering if he fits the profile for coeliac or at this point in just hoping it is so I know what's wrong and can do something g to fix it instead of just watch him get sicker. Thanks so much for any response. xx
  9. Celiac.com 11/21/2016 - This article is the result of an email exchange between Scott Adams and Dr. Sachin Rustgi, which took place between January and March, 2014. Scott Adams: For many years researchers have known that a non-genetically modified, celiac safe wheat does, in fact, exist. Please see: Is Triticum Monococcum (Einkorn) a Safe Wheat for those with Celiac Disease? Baking Quality Wheat Ancestors May be Safe for Those with Celiac Disease I believe that what you are actually doing, which is supported by an approximately $900K corporate grant (if I recall correctly), is to create a GMO version that you can patent in order to make money selling the seeds. This may not be necessary, as what you seek already exists naturally, and I did explain this to your cooperator years ago. Sachin Rustgi: We are aware of these publications mentioned in your post. It is unfortunate that some of these research papers make broad claims not fully supported by the data presented in these reports. This practice is damaging to society in these two ways: i) These publications mislead the public, which gives rise to misconceptions or myths, making it difficult for the general public to accept other innovative ideas. ii) It could even negatively impact public health if the results were blindly accepted and changes were made in routine eating practices without having careful scientific scrutiny of the findings. The popular press and media is partly responsible, because without assessing the credibility of results, they pick broad claims from these publications and serve them to the public in language laden with emotional impact, which the public receives and bases their opinion on. This is also true for the general claims made in the publications cited earlier. Different celiac patients are sensitive to different ‘gluten' proteins (prolamins). If one feeds peripheral blood cells sampled from a patient or a small group of patients (from a specific geographical location) with gluten proteins derived from a wheat genotype, it is expected either to see a reaction (monitored by the production of interferon gamma) or no apparent effect. But in the latter case it does not mean that the wheat genotype is non-toxic to all celiac patients. Because the sample is not a good representative of the genetic variability for disease susceptibility available in the global population, and is likely representing the prevalent disease predisposition allele present in a population inhabiting a particular geographical area or a common disease predisposition allele existing in a larger population (like the one that interacts with the immunogenic 33-mer peptide derived from alpha 2 gliadin). Thus, these T-cell based assays using cell-lines restricted to specific gliadin epitopes are not sufficient to claim general low-toxicity of wheat lines for all celiac patients. I also recommend that readers consult the following publications: Kasarda DD (2007) Letter to the editor: Triticum moncoccum and celiac disease. Scandinavian Journal of Gastroenterology 42(9):1141-1142; Vaccino P, et al. (2009) A catalogue of Triticum monococcum genes encoding toxic and immunogenic peptides for celiac disease patients. Mol Genet Genomics 281(3):289–300. The results of screening hexaploid wheat material under the Celiac Disease Consortium (CDC) funded projects in the Netherlands resulted in a number of publications (Molberg et al. 2005; van Herpen et al. 2006; van den Broeck et al. 2009; van den Broeck et al. 2010). But the authors of these publications never claimed that the material can be used generally. Rather, they suggested these lines to have ‘low-toxicity', as they are devoid of specific epitopes or gluten proteins. Thus, they are good for consumption by a group of celiac patients who share a specific susceptibility allele. We have summarized this material and associated limitations in our publication under two headings, "Wheat Genotypes Naturally Deficient in Immunogenic Gluten Peptides" and "Discussion" [consult Wen et al. 2012 Proc Natl Acad Sci U S A 109(50):20543-20548 for details]. In addition, there is a misconception that with breeding for improved yield, protein content and quality has enhanced the toxicity of the wheat lines, which has resulted in higher incidence of disease over the last couple of decades. Although careful analysis of the facts suggests that nothing has changed over time other than eating habits, procedures of disease diagnosis (became more sophisticated) and public awareness grew, which might have resulted in this increase in the estimated number of celiac patients [also consult Kasarda (2013) J Agric Food Chem 61:1155-1159; Brouns et al. (2013) J Cereal Sci 58:209-215]. However, it is possible to identify low toxicity wheat lines showing reduced accumulation of certain prolamins or immunogenic epitopes, but these lines are not good for general use by celiac patients making labeling of these lines a nightmare, because with the present technology it almost impossible to make recommendations to the patients that they are sensitive only to a specific gluten protein and thus can consume a particular wheat variety. Thus, this trait is an obvious candidate for genetic engineering. Two major achievements in this direction are: i) Gil-Humanes J, Pistón F, Tollefsen S, Sollid LM, Barro F (2010) Effective shutdown in the expression of celiac disease-related wheat gliadin T-cell epitopes by RNA interference. Proc Natl Acad Sci USA 107(39):17023–17028. ii) Wen et al. (2012) Structural genes of wheat and barley 5-methylcytosine DNA glycosylases and their potential applications for human health. Proc Natl Acad Sci U S A 109(50):20543-20548. Collectively, as different celiac patients have sensitivities for different gliadins and glutenins, it is almost impossible to breed wheat lines safe for all celiac patients using conventional breeding approaches. A second issue is the identification of a product's suitability for a group of celiac patients and its labeling, which would be a great logistic challenge. After careful scrutiny of the literature and that the Codex Alimentarius Commission declared that all wheat, barley and rye species including spelt (Triticum spelta L.), khorasan or kamut (T. polonicum L.), durum, einkorn (T. monococcum), triticale, tritordium and their hybrids are immunogenic, and should be avoided by celiac patients (also consult http://wheat.pw.usda.gov/ggpages/topics/celiac.html) add to that challenge. Moreover, some individuals are now known to be sensitive to oat gluten proteins (however, all oat varieties are not toxic, e.g., PrOatina™), and in rare cases, some are even sensitive to maize gluten proteins. According to the latest (August 2, 2013) FDA recommendations any product having Another issue that I want to raise is genetic modification. Why can't we look at transgenics more objectively without having negative feelings toward the technology before we start? Of course, researchers should first look for a solution in nature, and that's what we did, but there is no perfect solution available in nature. Although, the approaches we undertook are inspired by nature, the only way to deliver them is through biotechnology. This approach is where we are silencing the transcriptional regulator of all immunogenic prolamins. It was inspired by a mutation in a regulatory gene in barley. But, this mutation is ‘leaky'. That means it is not completely devoid of immunogenic prolamins. Similarly, the approach to express gluten-detoxifying enzymes in wheat grains was inspired by a barley enzyme that expresses during grain germination and degrades gluten proteins, along with a similar enzyme (but with complementary function) from the black mold Aspergillus, which naturally grows on bread slices. Another example is enzymes secreted by Lactobacillus species, a cocktail of acidifying and proteolytic lactic acid bacteria traditionally used for long-time fermentation by sourdough. These natural enzymes are capable of detoxifying gluten but express at a wrong time or a wrong location or are industrially inapplicable. We have no intention to patent the technology or the product. We will license the varieties to the Washington Grain Commission, which is a general trend at Washington State University. Scott Adams: From my perspective, your endeavor faces two big problems: What you end up with will be a genetically modified form of wheat, which is not allowed in Europe and other places (the list seems to be growing here); What you end up with will still be called wheat, and according to current laws in the USA, cannot be labeled "gluten-free." This is a huge issue that would also be true for einkorn. It would likely be a much easier process to further test einkorn's safety in celiac patients than to create a new genetic variant (that would really be similar to einkorn...right?), then have to go through the same process of testing. Sachin Rustgi: I agree with you on the first point, but as I mentioned previously, this debate about the so-called ‘GMOs' will settle down with time, which has happened in the past with several other technologies. For instance, people initially learned to make genetic crossbreeds in the 18th century, but the general acceptance of this technology as a breeding tool had to wait until the rediscovery of the Mendel's laws in 1900. Embracing this technology resulted in the production of hybrid maize that significantly boosted its yield. The second example is the reluctance to use induced mutagenesis in plant breeding, which is now well accepted and used as a standard procedure to increase genetic variability. The major advantage of shifting to this technology was the production of semi-dwarf rice and wheat cultivars that resulted in the ‘green revolution'. Similarly, the general public will accept the transgenic approach, as there is no other way to meet the growing demand for quality food. I foresee the outcome as an ‘evergreen revolution'. Moreover, if you look in depth at the outcome of using any of the above mentioned procedures, it is always a genetically modified organism, but it is up to us where we would like to draw a line. We are not in favor of releasing ‘reduced or low-toxicity' wheat lines because, as I mentioned earlier, sensitive to, at present. there is no way of telling patients which gluten protein(s) they are sensitive to. In addition, the wheat varieties are not marketed on the basis of their protein composition (however, it is possible to determine the protein profile of a wheat variety). Thus, our ultimate goal is to develop ‘celiac-safe' wheat genotypes completely devoid of immunogenic prolamins or expressing large quantities of gluten detoxifying enzymes. In the former case, the gluten-level of the wheat line is expected to be lower than or equal to the FAO recommended limit of 20 ppm, allowing its labeling as a ‘gluten-free' commodity. In the latter case, the genotype will contain the dietary enzyme supplement within its grains, and hence, will be labeled differently, and will serve as a natural dietary therapy for celiac patients. (These grains or derived flours can be blended into normal flour to bake different products). Two research groups, one in the US and the other in The Netherlands, are producing large quantities of these therapeutic enzymes in bacteria, and their utility as a dietary therapy for celiac patients is currently under advanced clinical trials. In this situation it will be the consumer's decision whether to get enzymes derived from a bacterium to be use as a food supplement or from wheat bread. These enzymes will not only be advantageous for celiac patients but will also prove beneficial to healthy individuals as these enzymes dramatically improve gluten digestibility and bioavailability. Healthy individuals, like celiac patients, cannot fully digest gluten proteins, but unlike celiacs, their intestines are impermeable to the undigested/partially digested gluten proteins, thus they are capable of flushing it out of their systems before it can induce an immune response. (Healthy individuals also do not carry disease predisposition alleles.) This indicates that even in healthy individuals the bioavailability of gluten proteins is low, which can be improved by feeding on these enzyme-fortified grains. It will also reduce how much must be eaten to get a similar amount of nutrition. As I mentioned previously, Triticum monococcum (popularly known as einkorn), is good for consumption by one group of patients, but the major difficulty is determining who can have it without causing damage to their intestines. Thus, we are continuously working toward obtaining wheat genotypes that will be safe for all celiac patients, not just for a sub-group of celiac patients. This will avoid problems with labeling and diagnosis. Scott Adams: If possible, I also just want to clarify my point #2, and get your reply to it. I believe that you said anything testing below 20ppm can be labeled "gluten-free" in the USA, but the new regulations are a bit more complicated (http://www.fda.gov/ForConsumers/ConsumerUpdates/ucm363069.htm): An ingredient that is any type of wheat, rye, barley, or crossbreeds of these grains; An ingredient derived from these grains and that has not been processed to remove gluten; An ingredient derived from these grains and that has been processed to remove gluten, if it results in the food containing 20 or more parts per million (ppm) gluten. I guess you could argue that the genetic modification process has removed the gluten, but this would be a legal argument that certainly isn't obvious in the new laws. For example, it is my understanding that beers which contain barley and have used an enzyme to render them gluten-free cannot, at present, be labeled "gluten-free" under the new law, even though they test below 20 ppm. Sachin Rustgi: I agree with you on the issue of labeling under the new regulations, but as you said it could be argued that these new wheat strains (devoid of immunogenic prolamins) should not be counted with the immunogenic wheat varieties, and should be classified as a new market class of wheat. The additional support for this argument comes from the preliminary feeding trials performed on transgenic gluten sensitive mice, and advanced trials performed under the NIH guidelines on existing gluten sensitive monkeys, and on interested celiac patients. Hopefully, the argument, supported by strong evidence, will foster reconsideration of the present labeling regulations. Scott Adams: What are the chances that cross-pollination of your celiac-safe variety of wheat by normal unsafe wheat will occur, and cause a percentage of the celiac-safe crop to become unsafe? Sachin Rustgi: Wheat is a strictly self-pollinated plant with a natural out-crossing rate of less than 4% in cultivated varieties (in exceptional cases up to 6.05% of out-crossing was reported). Out-crossing occurs mainly in the late emerging wheat spikes, which contribute very little to the total seed count of a plant. Moreover, wheat pollens are relatively heavier in comparison with the other grass pollens, thus could travel to a maximum of 1 m distance from the pollen source, and under optimal field conditions (20C and 60% relative humidity) can survive up to one half hour after release from anthers. Thus, if the APHIS (Animal and Plant Health Inspection Service) recommendations about isolation distances are followed a contamination of ‘celiac-safe' wheat with the ‘immunogenic' wheat can easily be avoided. In addition, a positive correlation between the rate of out-crossing in wheat and the length of flowering period was documented. Thus, the celiac-safe wheat genotypes can be selected for early and synchronously flowering phenotype to further reduce the rate of out-crossing.
  10. Celiac.com 06/20/2016 - Are there genetic correlations between PTSD and mental disorders or immune-related disorders? What role does genetics play in PTSD, if any? A team of researchers recently set out to discover genetic loci associated with the lifetime risk for PTSD in 2 groups from the Army Study to Assess Risk and Resilience in Service members (Army STARRS). The research team included Murray B. Stein, MD, MPH, Chia-Yen Chen, ScD; Robert J. Ursano, MD; Tianxi Cai, ScD; Joel Gelernter, MD; Steven G. Heeringa, PhD; Sonia Jain, PhD; Kevin P. Jensen, PhD; Adam X. Maihofer, MS; Colter Mitchell, PhD; Caroline M. Nievergelt, PhD; Matthew K. Nock, PhD; Benjamin M. Neale, PhD; Renato Polimanti, PhD; Stephan Ripke, MD5; Xiaoying Sun, MS; Michael L. Thomas, PhD; Qian Wang, PhD; Erin B. Ware, PhD; Susan Borja, PhD; Ronald C. Kessler, PhD; Jordan W. Smoller, MD, ScD; for the Army Study to Assess Risk and Resilience in Service-members (STARRS). They are variously affiliated with the Department of Psychiatry, and the Department of Family Medicine and Public Health, UCSD, La Jolla, the Psychiatry Service of the Veterans Affairs San Diego Healthcare System, San Diego, California, the Department of Psychiatry at Massachusetts General Hospital and Harvard Medical School, Boston, the Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, the Department of Psychiatry, Uniformed Services University of the Health Sciences in Bethesda, Maryland, the Harvard T. H. Chan School of Public Health, Boston, Massachusetts, the Department of Psychiatry, Genetics, and Neurobiology at Yale University in New Haven, Connecticut, the Institute for Social Research, University of Michigan, Ann Arbor, the Department of Psychology, Harvard University, Cambridge, Massachusetts, the Department of Computational Biology and Bioinformatics, Graduate School of Arts and Sciences at Yale University, New Haven, Connecticut, the National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, and with the Department of Health Care Policy, Harvard Medical School, Boston, Massachusetts The study looked at subjects from two coordinated genome-wide association studies of mental health in the US military. The first study, the New Soldier Study (NSS), included 3,167 unique patients with PTSD and 4,607 trauma-exposed control subjects. The NSS data were collected from February 1, 2011, to November 30, 2012. The second study, the Pre/Post Deployment Study (PPDS), included 947 unique patients with PTSD and 4,969 trauma-exposed control subjects. The PDDS data were collected from January 9 to April 30, 2012. The primary analysis compared lifetime DSM-IV PTSD cases with trauma-exposed controls without lifetime PTSD. Data were analyzed from March 18 to December 27, 2015. The team used logistic regression models to conduct association analyses for PTSD among European, African, and Latino Americans by study, followed by meta-analysis. They also estimated heritability, genetic correlation and pleiotropy with other psychiatric and immune-related disorders. The NSS population of 7,774 patients was just over 80% male, and about 21 years old, while the PPDS population of 5,916 patients was 94.4% male, and about 26.5 years old. A genome-wide significant locus was found in ANKRD55 on chromosome 5 (rs159572; odds ratio [OR], 1.62; 95% CI, 1.37-1.92; P = 2.34 × 10−8) and persisted after adjustment for cumulative trauma exposure (adjusted OR, 1.64; 95% CI, 1.39-1.95; P = 1.18 × 10−8) in the African American samples from the NSS. They also found a genome-wide significant locus in or near ZNF626 on chromosome 19 (rs11085374; OR, 0.77; 95% CI, 0.70-0.85; P = 4.59 × 10−8) in the European American samples from the NSS. They did not find any similar results for either single-nucleotide polymorphism in the corresponding ancestry group from the PPDS sample, in other ancestral groups, or in transancestral meta-analyses. Overall, they saw no significant evidence for single-nucleotide polymorphism–based heritability, and they found no significant genetic correlations between PTSD and 6 mental disorders or 9 immune-related disorders. They did find significant evidence of a single-gene linking PTSD and rheumatoid arthritis and, to a lesser extent, psoriasis. Beyond that, they didn't find not much to support any connection to specific gene locations. The researchers are calling for additional studies "to replicate the genome-wide significant association with ANKRD55—associated in prior research with several autoimmune and inflammatory disorders—and to clarify the nature of the genetic overlap observed between PTSD and rheumatoid arthritis and psoriasis." Source: JAMA Psychiatry. Published online May 11, 2016. doi:10.1001/jamapsychiatry.2016.0350
  11. Celiac.com 05/16/2016 - A number of epidemiological and clinical studies suggest a connection between inflammation and Alzheimer disease, their relationship is not well understood and may have implications for treatment and prevention strategies. A research team recently set out to figure out if a subset of genes involved with increased risk of inflammation are also associated with increased risk for Alzheimer disease. The research team included JS Yokoyama, Y Wang, AJ Schork, WK Thompson, CM Karch, C Cruchaga, LK McEvoy, A Witoelar, CH Chen, D Holland, JB Brewer, A Franke, WP Dillon, DM Wilson, P Mukherjee, CP Hess, Z Miller, LW Bonham, J Shen, GD Rabinovici, HJ Rosen, BL Miller, BT Hyman, GD Schellenberg, TH Karlsen, OA Andreassen, AM Dale, RS Desikan; and the Alzheimer’s Disease Neuroimaging Initiative. They are variously affiliated with the Departments of Neurosciences, Cognitive Sciences, Psychiatry, and Radiology at the University of California, San Diego, La Jolla, the Departments of Neurology, Radiology and Biomedical Imaging at the University of California, San Francisco, the Department of Psychiatry, Washington University, St Louis, Missouri, the Division of Mental Health and Addiction, Oslo University Hospital, the Norwegian Centre for Mental Disorders Research, Institute of Clinical Medicine, University of Oslo, the Division of Gastroenterology, and the Norwegian PSC Research Center and KG Jebsen Inflammation Research Centre, Research Institute of Internal Medicine, Division of Cancer Medicine, Surgery and Transplantation at Oslo University Hospital Rikshospitalet, Oslo, Norway, the Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany, the Department of Neurology, Massachusetts General Hospital, Boston, and the Department of Pathology and Laboratory Medicine at the University of Pennsylvania Perelman School of Medicine, Philadelphia. Using data from numerous genome-wide association studies from several clinical research centers, the team conducted a genetic epidemiology study in July 2015, in which they systematically investigated genetic overlap between Alzheimer disease (International Genomics of Alzheimer's Project stage 1) and Crohn's disease, ulcerative colitis, rheumatoid arthritis, type 1 diabetes, celiac disease, and psoriasis. The team assessed P values and odds ratios from genome-wide association studies of more than 100, 000 individuals from previous comparisons of patients vs respective control groups. They used consensus criteria to confirm diagnosis for each disorder previously made in the parent study. The main outcome was the pleiotropic (conjunction) false discovery rate P value. Follow-up for candidate variants included neuritic plaque and neurofibrillary tangle pathology; longitudinal Alzheimer's Disease Assessment Scale cognitive subscale scores as a measure of cognitive dysfunction (Alzheimer's Disease Neuroimaging Initiative); and gene expression in Alzheimer disease vs control brains (Gene Expression Omnibus data). These findings confirm genetic overlap between Alzheimer disease and immune-mediated diseases, and suggest that immune system processes influence Alzheimer disease pathogenesis and progression. For more detail, and exact data results, see JAMA Neurol. 2016 Apr 18. doi: 10.1001/jamaneurol.2016.0150.
  12. Celiac.com 03/02/2016 - A team of researchers recently completed the first extensive study comparing gene expression in children and adults with celiac disease, and found some key differences between the two groups. The research team included V. Pascual, L. M. Medrano , N. López-Palacios, A. Bodas, B. Dema, M. Fernández-Arquero, B. González-Pérez, I. Salazar, and C. Núñez. They are variously affiliated with Servicio de Pediatría, Servicio de Aparato Digestivo, and Servicio de Inmunología Clínica at the Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain, and with the Departamento de Producción Animal, Facultad de Veterinaria, and the Departamento de Estadística e Investigación Operativa I, Facultad de Matemáticas, Universidad Complutense de Madrid in Madrid, Spain. For their study, the team collected 19 duodenal biopsies of children and adults with celiac disease and compared the expression of 38 selected genes between each other, and in 13 non-celiac disease control subjects matched by age. The team used a Baysian methodology to analyze the differences of gene expression between groups. They found that, compared to controls, children and adults with celiac disease all had seven genes with a similarly altered expression. These were C2orf74, CCR6, FASLG, JAK2, IL23A, TAGAP and UBE2L3. The team found differences in 13 genes, six of which were altered only in adults (IL1RL1, celiac disease28, STAT3, TMEM187, VAMP3 and ZFP36L1) and two only in children (TNFSF18 and ICOSLG); while four genes show a significantly higher alteration in adults (CCR4, IL6, IL18RAP and PLEK) and one in children (C1orf106). Between the two groups, the team found significant differences in the expression level of several genes, most notably the higher alteration seen in adults. The team is calling for further research to assess possible genetic influences behind the changes, along with the specific physical consequences of the reported differences. Source: PLOS.ORG. Published: February 9, 2016. DOI: 10.1371/journal.pone.0146276
  13. Celiac.com 02/18/2011 - In their search for a deeper understanding of the connections between celiac disease and Crohn’s disease, scientists have begun to focus on genetic variants that trigger inflammation in the gut. A research team examining associations between celiac disease and Crohn’s disease has now confirmed four common genetic variations between the two diseases. Their discovery may help to explain why people with celiac disease suffer Crohn’s disease at higher rates than the general population. Better understanding the genetic connections will likely pave the way for new treatments for symptoms common to both conditions, such as inflammation. The study used a new method of analysis called a genome-wide association study, or GWAS. This allows researchers to look at hundreds of thousands of genetic variations, called single nucleotide polymorphisms, or SNPs, that may be involved in any one disease. The research team compared 471,504 SNPs, representing the genomes of about 10,000 people, some of whom had Crohn’s disease, some of whom had celiac disease, and others who were healthy. They found four genes that seemed to raise the risk for both diseases. Two of these genes, IL18RAP and PTPN2, had already been associated with each disease. Another, called TAGAP, had previously been identified as a risk factor in celiac disease, but was newly associated with Crohn’s disease. The fourth gene, PUS10, had been previously been tied to Crohn’s disease, celiac disease, and ulcerative colitis. Three of the four genes seem to influence immune system response to perceived threats. “The first three we can say are involved in T-lymphocyte function,” Rioux says. “They seem to have a role to play in how these cells respond to a given stimulus.” In celiac disease, gluten-induced intestinal inflammation causes damage that prevents the intestine from absorbing nutrients in food. This can cause a wide range of problems, from anemia to osteoporosis to lactose intolerance. In Crohn’s disease, inflammation of the digestive tract often causes the bowel to empty frequently, resulting in diarrhea, among other problems. Some research shows that people with one condition are more likely to have the other. One study, for example, found that more than 18.5% of people with Crohn’s disease also have celiac disease. The study has “completely changed the way we can identify genetic risk factors,” says study co-author John D. Rioux, PhD, an associate professor of medicine at the University of Montreal, in Quebec, Canada. “There are sequence differences at the genetic level that get translated down to the protein levels,” Rioux notes. “And these differences may really nudge a person toward inflammation." He adds that "we’re just in the beginning, but we hope they may elucidate a common pathway and one day help us discover treatments that correct the underlying genetic changes.” Source: Jan. 27 issue of PLoS Genetics
  14. Celiac.com 09/16/2015 - Autoimmune disease, such as type 1 diabetes, Crohn's disease, and juvenile idiopathic arthritis, affect about 7 to 10 percent of the population in the Western Hemisphere. Using genome-wide association studies (GWASs), researchers have identified hundreds of susceptibility genes, including shared associations across clinically distinct autoimmune diseases. A team of researchers recently conducted an inverse χ2 meta-analysis across ten pediatric-age-of-onset autoimmune diseases (pAIDs) in a case-control study including more than 6,035 cases and 10,718 shared population-based controls. The research team included Yun R Li, Jin Li, Sihai D Zhao, Jonathan P Bradfield, Frank D Mentch, S Melkorka Maggadottir, Cuiping Hou, Debra J Abrams, Diana Chang, Feng Gao, Yiran Guo, Zhi Wei, John J Connolly, Christopher J Cardinale, Marina Bakay, Joseph T Glessner, Dong Li, Charlly Kao, Kelly A Thomas, Haijun Qiu, Rosetta M Chiavacci, Cecilia E Kim, Fengxiang Wang, James Snyder, and Marylyn D Richie. The are variously affiliated with The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Medical Scientist Training Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; the Department of Biostatistics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; the Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; the Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York, USA; the Program in Computational Biology and Medicine, Cornell University, Ithaca, New York, USA, and the Department of Computer Science, New Jersey Institute of Technology, Newark, New Jersey, USA. For their study, the team identified 27 genome-wide significant loci associated with one or more pAIDs, mapping to in silico–replicated autoimmune-associated genes (including IL2RA) and new candidate loci with established immunoregulatory functions such as ADGRL2, TENM3, ANKRD30A, ADCY7 and CD40LG. The team functionally enriched the pAID-associated single-nucleotide polymorphisms (SNPs) for deoxyribonuclease (DNase)-hypersensitivity sites, expression quantitative trait loci (eQTLs), microRNA (miRNA)-binding sites and coding variants. They also identified biologically correlated, pAID-associated candidate gene sets on the basis of immune cell expression profiling and found evidence of genetic sharing. Network and protein-interaction analyses demonstrated converging roles for the signaling pathways of type 1, 2 and 17 helper T cells (TH1, TH2 and TH17), JAK-STAT, interferon and interleukin in multiple autoimmune diseases. Source: Nature Medicine 21, 1018–1027 (2015) doi:10.1038/nm.3933
  15. Celiac.com 06/03/2015 - Although dietary gluten is the trigger for celiac disease, risk is strongly influenced by genetic variation in the major histocompatibility complex (MHC) region. A team of researchers recently set out to fine map the MHC association signal to identify additional celiac disease risk factors independent of the HLA-DQA1 and HLA-DQB1 alleles. The researchers included J. Gutierrez-Achury, A. Zhernakova, S.L. Pulit, G. Trynka, K.A. Hunt, J. Romanos, S. Raychaudhuri, D.A. van Heel, C. Wijmenga, and P.I. de Bakker. Their team fine mapped the MHC association signal looking for risk factors other than the HLA-DQA1 and HLA-DQB1 alleles, and the found five new associations that account for 18% of the genetic risk. Taking these new loci together with the 57 known non-MHC loci, genetic variation can now explain up to 48% of celiac disease heritability. Nailing down exactly what genetic factors influence the heritability of celiac disease will help researchers to better understand the disease, and to develop better treatments and screening options. Research team members are variously affiliated with the Department of Genetics, University Medical Center, University of Groningen, Groningen, the Netherlands, the Department of Medical Genetics at the Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands, the Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK, the Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA, the Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA, the Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA, the Arthritis Research UK Epidemiology Unit, Centre for Musculoskeletal Research, Institute of Inflammation and Repair, University of Manchester, Manchester, UK, the Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands, and with the Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands. Source: Nat Genet. 2015 Apr 20. doi: 10.1038/ng.3268.
  16. Dig Dis Sci 1999;44:2344-2349. Celiac.com 04/10/2000 - Dr. Carme Farre, of Hospital Sant Joan de Deu, in Barcelona, Spain, and his multi-center colleagues, report in the November issue of Digestive Diseases and Sciences that both serologic markers and the human lymphocyte antigen class II extended DQ2 (HLA-DQ2) haplotype are useful markers for screening first-degree relatives of patients with celiac disease for the disorder. These markers are more reliable predictors of celiac disease than other clinical features, which are absent from one third of relatives of people with celiac disease. The researchers examined the usefulness of serologic markers, HLA-DQ2 haplotype, and clinical features common to celiac disease in the diagnosis of the disorder in 675 first-degree relatives of celiac disease patients. The diagnosis was confirmed by intestinal biopsy. Their results showed that 5.5% of the subjects were diagnosed with celiac disease, which is significantly higher than what was observed in the general public in a previous study. Serum IgA-class anti-endomysium antibodies (IgA-AEA) and IgA-class anti-gliadin antibodies (IgA-AGA) were observed in 5.8% and 1.9% of the relatives, respectively. According to the researchers: Our results show that IgA-AEA is the most useful marker, since all but one IgA-AEA-positive relative showed histological findings of [celiac disease]. Further, the measurement of IgA-AGA would have missed 66% of the affected relatives. The researchers also concluded that the HLA-DQ2 haplotype also appeared to be a more useful indicator to determine which first-degree relatives had an increased genetic susceptibility to celiac disease, because the marker was detected in 93% of first-degree relatives found to have celiac disease, and 18% of those without it. The four most common clinical symptoms for celiac disease, diarrhea, anemia, food intolerance and growth retardation, were not found in one third of the relatives of patients with celiac disease. The researchers conclude: Although the definitive diagnosis of [celiac disease] relies upon the intestinal biopsy, it should be preceded by a noninvasive, inexpensive and easy-to-perform screening technique. Their findings indicate that using blood serum IgA-AEA measurements is a useful screening tool for noninvasive screening, and HLA-DQ2 assessment may delineate a very high risk population with a particular genetic susceptibility to [celiac disease].
  17. My 6 year old daughter was recently diagnosed with Celiac, (positive blood work and biopsy confirmed). I suspected Celiac for her because my brother has it. The whole family was then tested and my blood work came back positive (ttg ,72- even though by that time I was already eating a mostly gluten free diet). My question is- do I really need a biopsy to confirm diagnosis at this point? I'm having a difficult time getting in to a GP for a referral to a gastro- I'm anxious to start my gluten free diet. Though I didn't have many symptoms, I am hopeful and looking forward to improved stomach issues with the gluten-free diet. It's hard to continue eating gluten while I wait. Any thoughts on whether the biopsy seems necessary for me would be greatly appreciated
  18. Hello everyone!! Still on my journey to figure out what's going on with me! I've had a positive gliadin IgG test, negative gliadin IgG, Negative tissue transglutaminase IgG/IgA... Negative biopsy, it showed inflammation and lymphocytes infiltrating the epithilium but no issues with the villi... After I went gluten free for a month and felt great... Reintroduced and all my aches pains and respiratory issues came back I didn't think I had any GI issues but when I reintroduced I realized it made me constipated.... Now I had the genetic testing done and my HLA-DQB1*02 and HLA-DQB1*03:02 were negative but HLA-DQA1*05 is positive. Report says this is rarely observed in individuals with celiac and that it is only mildly supportive of a clinical diagnosis of celiac disease..... I know I should just go gluten free cause it makes me feel better... But I would have really loved a yes you have this or a no you don't
  19. Celiac.com Sponsor: Review

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    Do you have the genetic markers for celiac disease? This product will provide you with a definitive answer. The Glutenpro Celiac Genesure Genetic Test tests for the presence of the HLA DQ2 and HLA DQ8 genotypes. A positive test means you are at risk for the disease, but it does not necessarily mean you will develop it. A negative result means you do not have celiac disease and can never develop it. According to Glutenpro, those who have a family history of celiac, Type 1 diabetes or Downs Syndrome and get lab tests done for celiac disease on a regular basis will no longer have to do this, should their genetic test be negative. Taking this test is super easy. After your kit arrives in the mail all you do is swab the inside of your cheek three different times using three swabs. Allow the swabs to dry, return them in the envelope provided (you pay postage) and include your personal information, and you'll receive your results in about 10 business days. My test results indicated that I'm negative, which is good to know for both myself and my kids. For more information visit: www.glutenpro.com. Review written by Patricia Seeley.
  20. Celiac.com 09/09/2011 - A team of researchers recently set out to assess the effects of milk-feeding behavior and the HLA-DQ genotype on intestinal colonization of Bacteroides species in infants with a risk of developing celiac disease. The research team included E. Sánchez, G. De Palma, A. Capilla, E. Nova, T. Pozo, G. Castillejo, V. Varea, A. Marcos, J. A. Garrote, I. Polanco, A. López, C. Ribes-Koninckx, M. D. García-Novo, C. Calvo, L. Ortigosa, F. Palau, and Y. Sanz. They are affiliated with the Ecofisiología Microbiana y Nutrición, Instituto de Agroquímica y Tecnología de Alimentos (CSIC) in Valencia, Spain. The team studied 75 full-term newborns with at least one first-degree relative who suffered from celiac disease. They classified the newborns according to milk-feeding practice (breast-fed or formula fed) and HLA-DQ genotype, which indicates high or low genetic risk. The team used PCR and denaturing gradient gel electrophoresis (DGGE) to analyze stools at 7 days, 1 month, and 4 months. They found that formula-fed infants showed greater Bacteroides species diversity than did breast-fed infants. Breast-fed infants showed a higher prevalence of Bacteroides uniformis at 1 and 4 months of age, while formula-fed infants had a higher prevalence of B. intestinalis at all sampling times, of B. caccae at 7 days and 4 months, and of B. plebeius at 4 months. Infants with low genetic risk showed greater colonization of B. ovatus, B. plebeius, and B. uniformis, while those with high genetic risk showed a greater colonization of B. vulgatus. Among breast-fed infants, those with low genetic risk had greater colonization of B. uniformis than those with high genetic risk, who showed higher rates of B. vulgatus. Among formula-fed infants, the prevalence of B. ovatus and B. plebeius was increased in those with low genetic risk, while the presence of B. vulgatus was greater in those with high genetic risk. The results indicate that both the type of milk feeding and the HLA-DQ genotype influence the types of Bacteroides that colonize in the intestinal tract, and possibly also influence risk for developing celiac disease. Source: Appl Environ Microbiol. 2011 Aug;77(15):5316-23. Epub 2011 Jun 3.
  21. I used to be under the impression that celiac disease was a condition that arose when one was born. According to Dr. Fasano's more recent research, we now know that this is not the case. People can go 70 years tolerating gluten just fine before it causes problems. One of the things that has intrigued me is the recommendation to keep infants away from gluten until 4-6 months have lapsed. I believe this has to do with intestinal permeability allowing greater quantities of gluten to travel through thus making the immune system not cope well and thus resulting in it malfunctioning and destroying the gut and developing defective memory cells that will be there for the rest of their lives. I also often hear of people being diagnosed with celiac disease after a cold, flu or gastrointestinal infection. If this is the case, is it possible that avoiding gluten during a time of emotional stress or infection (and then re-introducing after fully recovering from the event) may prevent the onset of celiac disease? Let me know your thoughts.
  22. 10/05/2009 - Pregnant women with celiac disease suffer early pregnancy loss more often than women without celiac disease. A team of Italian researchers recently set out to look at a possible role of genetic pro-thrombotic variants in early pregnancy loss in women with celiac disease. The research team was made up of C. Ciacci, R. Tortora, O. Scudiero, R. Di Fiore, F. Salvatore, and G. Castaldo. The team looked at 39 women with celiac disease, who had experienced at least two early pregnancy losses within the first 3 months of pregnancy, a control group of 72 celiac women with a history of one or more normal pregnancies with no pregnancy loss. Each of the women were enrolled in the study immediately upon diagnosis for celiac disease, whereupon, the researchers obtained a clinical history obtained from each woman. The researchers then screened leukocyte DNA for factor V Leiden (mutation G1691A), factor V R2 (H1299R), factor II (G20210A), methylenetetrahydrofolate reductase (MTHFR) (C677T and A1298C), beta-fibrinogen (−455 G>A), PAI-1 alleles 4G/5G, factor XIII (V34L), and HPA-1 (L33P). Women with pregnancy losses were notably older (p = 0.002) among the celiacs than in controls. Of the gene variants examined, the allelic frequency of 4G variant of PAI-1, and the frequency of mutant genotypes were significantly more frequent in the group of celiac women with early pregnancy loss (p = 0.00003 and 0.028, respectively). Interestingly, the beta-fibrinogen −455 G>A genotype distribution differs substantially between the two groups, though frequency of the variant allele remains the same. The control group showed more frequent variant genotypes (p = 0.009). Based on these data, the research team believes the 4G variant of the PAI-I gene may predispose some celiac women who carry the gene to early pregnancy loss, though they note that their data should be confirmed on larger populations. Digestive and Liver DiseaseVolume 41, Issue 10, October 2009, Pages 717-720
  23. Celiac.com 07/03/2013 - Researchers have completed a genetic study of six autoimmune diseases, including diabetes, the largest such study of human disease genetics to date. The study will help scientists in their efforts to uncover the causes of these diseases, which include autoimmune thyroid disease, celiac disease, Crohn’s disease, psoriasis, multiple sclerosis and type 1 diabetes. While currently unknown, the underlying causes of these conditions are believed to involve a complex combination of genetic and environmental factors. In each of the six diseases, the identified genetic variants explained only a proportion of the heritability. Under one of the current major genetic disease hypotheses, the so called ‘rare-variant synthetic genome-wide association hypothesis,’ a small number of rare variants in risk genes are likely the major cause of the heritability of these conditions. In their study, the research team used high-throughput sequencing techniques, in an effort to identify new genetic variants, including rare and potentially high risk variants, in 25 previously identified risk genes taken from a sample of nearly 42,000 patients. Their data suggest that the genetic risk of these diseases more likely results from a complex interaction of hundreds of variants, each small on its own, but which, taken together impact the development of these six diseases. They estimate that rare variants in these risk genes make up only about three per cent of the heritability of these conditions that can be explained by common variants. The results, says lead study author David van Heel, suggest that "risk for these autoimmune diseases is not due to a few high-risk genetic variations." Rather, risk is likely due to a "random selection from many common genetic variants which each have a weak effect.” This could mean that it will never be possible to accurately predict a person's risk of developing any of these six autoimmune diseases, simply because there are too many variables. “However, the results do provide important information about the biological basis of these conditions and the pathways involved, which could lead to the identification new drug targets,” said van Heel. Source: Nature Genetics 42, 295–302 (2010). doi:10.1038/ng.543; and Firstpost.com.
  24. Celiac.com 06/24/2013 - Researchers don't know much about the genetic history of celiac disease. They know especially little about the age of specific gene sequences that leave people at risk for developing celiac disease. A recent case study provides a small bit of information about that question. The information was gathered by a team of researchers looking into the case of a young, first century AD woman, found in the archaeological site of Cosa. The woman's skeleton showed clinical signs of malnutrition, such as short height, osteoporosis, dental enamel hypoplasia and cribra orbitalia, indirect sign of anemia, all strongly suggestive for celiac disease. The research team included G. Gasbarrini, O. Rickards, C. Martínez-Labarga, E. Pacciani, F. Chilleri, L. Laterza, G. Marangi, F. Scaldaferri, and A. Gasbarrini. They are affiliated with the Ricerca in Medicina Foundation NGO, Falcone and Borsellino Gallery, in Bologna, Italy. However, initial inspection of the woman's bones did not provide answers about the genetics that might confirm that these traits were, in fact, associated directly with celiac disease. To do that, the team needed to examine her human leukocyte antigen (HLA) class II polymorphism. That required extracting DNA from a bone sample and a tooth and genotyping HLA using three HLA-tagging single nucleotide polymorphisms for DQ8, DQ2.2 and DQ2.5, specifically associated to celiac disease. The results showed that the woman did in fact carry HLA DQ 2.5, the haplotype associated to the highest risk of celiac disease. This is the first time that researcher have documented the presence of a celiac-associated HLA haplotype in an archaeological specimen. The results show that the genetic markers associated with high risk of celiac disease are at least a couple of thousand years old. Source: World J Gastroenterol. 2012 Oct 7;18(37):5300-4. doi: 10.3748/wjg.v18.i37.5300.
  25. My two youngest kids (dtr and son) are gluten intolerant, we do not know if it's Celiac but plan to have genetic testing soon. They are both being tested for Hemophilia and Von Wilebrand, this came about because my oldest dtr just tested positive as a symptomatic Hemophilia A carrier. Anyway, when I mentioned the gluten issues to the hematologist today she did not seem surprised at all! She talked about antibodies and some other stuff but I had talked to 3 nurses, a social worker, a genetic counselor and another doc already and my head was spinning! Do any of you have any bleeding disorders? I realize it's genetic but I have to wonder if one disease plays off of or can make a person susceptible to another? Or is is just plain luck?! I say that in jest because I have to-I'm exhausted and occasionally have to laugh at our issues
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