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Found 9 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 I am wondering if anyone was tested being negative for blood and or gene tests and later tested positive for Celiac. I was tested quite a few times but was already on a gluten free or very limited gluten diet. I also did the gene test which was negative and my previous GI Dr swore I could never have Celiac, but today my new nutritionist just told me that is absolutely false that is it still possible to have it. Because I have other autoimmune, HLA-B27, gastroparesis, IBS, acne (and cystic acne), eczema, and a bunch of other issues until he knows for sure he is treating me as if I have it. Help would be appreciated. Thanks
  3. Is it possible to have the celiac gene and be non-celiac gluten sensitive? Or if you are reacting to gluten and carry the gene, does that give an indication of celiac? My son's blood test came back negative, but the doctor wouldn't do an endo biopsy because she said he didn't have celiac. But if he carries the gene and had symptoms, wouldn't that be a red flag? Or could he carry the gene, have symptoms, and still just be NCGS?
  4. I would like some help in understanding my results from the 23andme test. I am being told that I have 2 copies of a genetic variant that was tested. The variants were detected in the HLA-DQA1 gene. "We detected two copies of a variant linked to the HLA-DQ2.5 haplotype." Do do these results mean? In the HLA-DQ2.5 - HLA-DQa1 - rs2187668 - there are two TT. Is this bad? Is this what is mean by having homozygous hla dqa2.5? I am new to all of this and am just looking for some answers. I am concerned about being at risk for celiac disease. Thanks!
  5. Celiac.com 06/27/2017 - What can gene cells tell us about potential gut damage in people with celiac disease? Can they be harnessed to paint an accurate picture of what's going on in the gut? A team of researchers recently set out to study autoimmunity and the transition in immune cells as dietary gluten induces small intestinal lesions. Specifically, they wanted to know if a B-cell gene signature correlates with the extent of gluten-induced gut damage in celiac disease. The research team included Mitchell E. Garber, Alok Saldanha, Joel S. Parker, Wendell D. Jones, Katri Kaukinen, Kaija Laurila, Marja-Leena Lähdeaho, Purvesh Khatri, Chaitan Khosla, Daniel C. Adelman, and Markku Mäki. They are variously affiliated with the Alvine Pharmaceuticals, Inc, San Carlos, California, the Department of Chemistry, Stanford, California, the Institute for Immunity, Transplantation and Infection, Stanford, California, the Division of Biomedical Informatics, Department of Medicine, Stanford, California, the Department of Chemical Engineering, Stanford, California, the Stanford ChEM-H, Stanford University, Stanford, California, the InterSystems Corporation, Cambridge, Massachusetts, the Lineberger Comprehensive Cancer Center, Chapel Hill, North Carolina, the Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, the EA Genomics, Division of Q2 Solutions, Morrisville, North Carolina, the Tampere Center for Child Health Research, Tampere, Finland, the University of Tampere Faculty of Medicine and Life Sciences, Tampere, Finland, the Department of Pediatrics, Tampere, Finland, the Department of Internal Medicine, Tampere, Finland, Tampere University Hospital, Tampere, Finland, and with the Division of Allergy/Immunology, Department of Medicine, University of California San Francisco, San Francisco, California. The team looked at seventy-three celiac disease patients who followed a long-term, gluten-free diet. Those patients ingested a known amount of gluten daily for 6 weeks. Prior to the study, the team took a peripheral blood sample and intestinal biopsy specimens, then did the same after 6 weeks of gluten challenge. To accurately quantify gluten-induced intestinal injury, they reported biopsy results on a continuous numeric scale that measured the villus-height–to–crypt-depth ratio. As patient gut mucosa remained either relatively healthy or else deteriorated under the gluten challenge, the team isolated pooled B and T cells from whole blood, and used DNA microarray to analyze RNA for changes in peripheral B- and T-cell gene expression that correlated with changes in villus height to crypt depth. As is often the case with celiac disease, intestinal damage from the gluten challenge varied considerably among the patients, ranging from no visible damage to extensive damage. Genes differentially expressed in B cells correlated strongly with the extent of gut damage. Increased B-cell gene expression correlated with a lack of sensitivity to gluten, whereas their decrease correlated with gluten-caused mucosal damage. The the correlation with gut damage was tied to a core B-cell gene module, representing a subset of B-cell genes analyzed. In patients with little to no intestinal damage, genes comprising the core B-cell module showed an overall increase in expression over the 6 week period. This suggests that B-cell immune response in these patients may be a reaction to promote mucosal homeostasis and circumvent inflammation. The idea that B-cell gene signature can reveal the extent of gut damage in celiac patients is intriguing. Clearly more research is needed to determine how this revelation might be harnessed to improve the evaluation and treatment of celiac disease. Source: Cell Mol Gastroenterol Hepatol. 2017 Jul; 4(1): 1–17. Published online 2017 Jan 28. doi: 10.1016/j.jcmgh.2017.01.011. PMCID: PMC5413199
  6. Two years ago I suffered from a bout of diarrhea and abdominal pain for 7 days. During this time period I ate HEAVY amounts of gluten. Sometimes two sandwiches w/ wheat bread 2 times a day, pasta for dinner, and honey wheat smacks at night. I went to doctor and eventually GI. The tests they ran came in as follows: Total IGA - Normal EMA IGA - Negative tTG IGA - Negative Gliadin DP IgA - Negative Gliadin DP IgG - POSITIVE; Score of 43 U/mL Gene Test: LOW RISK DQ2.2 Heterozygous By the time I saw the GI my symptoms had subsided. He told me not to worry and that Celiac is highly unlikely. Said biopsy wasn't necessary given my genetic markers and lack of symptoms. I wasn't convinced so I monitored my body closely. As 2015 went on symptoms would reoccur but were mild. I'd have abdominal pain and lose stools for one day. Eventually these attacks disappeared even though I continued eating gluten. In 2016 I had my next physical. No flags and no signs of malabsorbtion. Numbers were literally perfect. If I have Celiac, symptoms are EXTREMELY MILD. At least two times a month I get a minor headache. I had a few canker sores last summer. Sometimes I have minor bloating. Had a loose stool last month. But overall, I am very healthy. I run 2-3 miles a day, have a very physically intensive job, and feel great. So obviously I'm getting some mixed signals here. These symptoms appear in healthy people as well! Also there is no consistency in symptoms! I can still eat a big mac and feel fine! I am in the process of getting 2nd opinion. On one hand I fear that I'm in the early stages of Celiac. But at the same time I don't want to follow a highly restrictive diet unless its necessary. On the other hand, I've read studies how high gluten intake can lead to something called leaky gut (even in healthy people). So it is possible I inflamed my gut temporarily and then healed after a few months. Either way I need an answer. Even though I feel good now I don't want to wake up with cancer in ten years! What is your assessment of my situation? Also, do some of you also have VERY MILD symptoms? What did your labs look like and did you have any signs of malabsorbtion? Finally, do any of you have this low risk 2.2 Heterozygous gene? Like I said I'm getting another opinion shortly. But I'd like some peace of mind either way.
  7. I posted on here a few days ago asking for help understanding my test results since my doctor didn't know how to interpret them. However, no one has replied. PLEASE can someone help me understand these results? I think it is listing the ones I tested positive for, which includes the DQ2 gene carried by 90% of people with Celiac. HLA DRB1, DQB1 LOW RESOLUTION DRB1 DRB1*07 (DR7) DRB1 DRB1*11 (DR11) DQB1 DQB1*02 (DQ2) DQB1 DQB1*03 (DQ7) COMMENT SEE BELOW. Serologic equivalent is given in parentheses. When only a single antigen or allele is detected, it likely indicates homozygosity and is reported accordingly. However, additional testing would be required for confirmation. Low resolution HLA typings are routinely performed by PCR-rSSO or PCR-SSP methodologies. Thank you in advance for your help.
  8. Hello, everyone, this is my first time posting in the forums, but I have found so much useful information on celiac.com that I feel confident in asking for help. I have been a long time sufferer of IBS-D, but my GI doctor wanted to test for celiac because I have so many symptoms of the disease, and my flare ups are almost completely under control when I'm on a gluten-free diet. I had a celiac genetics test done through Quest, which was sent out to UCLA, and the results are a bit confusing: Locus DNA Typing Result NMDP Code Comments Allele Allele DQB1* 03 06 03:ACBGS 06:ABXCF High risk antigen HLA-DQ2 ABSENT High risk antigen HLA-DQ8 ABSENT DQA1* 01 02:01 01:ARSW 02:01 I can see that I was negative for DQ2 & DQ8, which most likely means it's not celiac, but I am interested to know if I might have any of the other antigens that may indicate gluten sensitivity (DQ1, etc.) I did have a blood test done prior to this, which was negative, but also showed I was IGA deficient so my doctor said it was no good. For that test I had to do a gluten challenge for 6 weeks because I had been on a gluten-free diet. I went back on the gluten-free diet after the blood test so there is really nothing else that can be done at this point. I am fine not being diagnosed with celiac or gluten sensitivity. I know how luten makes me feel, and after 30+ years of suffering I am so relieved to find a simple solution that works for me! I do have children with GI issues, though, so having any information to help them would be fantastic. If anyone can make sense of the alleles in this lab result, I really appreciate it. Thanks!
  9. I've been reading here quite a bit while impatiently awaiting my Enterolab test results. A year and a half ago, I had a negative blood test and biopsy, but that was after 13 months gluten free with only an 8 day gluten challenge. Since I have a son who is gluten sensitive and I've had digestive issues since I was two months old, I was really interested in the Enterolab tests. I feel better on a gluten free diet, but I still have some inflammation and disgestive issues, and Enterolab seemed like a reliable way to at least be pointed in the right direction to start elimination diets. (Other than gluten -- I've been gluten-free since October 2011 other than my 8 day gluten challenge in November 2012. Gluten is absolutely not an option for me)! Anyway, my results are below. Here are my questions: 1) The gene stuff is really confusing. Although I understand I don't have the celiac genes, I do have two gluten sensitivity genes. I just get confused by the "DQ8" , "DQ2", DQ1, terms I see on this forum. I know I don't have DQ2 or DQ8, but which DQ do I have? In the end, it probably doesn't matter, but I'd like to know so when I hear people talking about a DQ-whatever, I'll know "Oh that's me!" 2) Since I don't have DQ2 or DQ8 genes, I can't be celiac right? Because I have elevated Anti-TTG and some major malabsorbtion going on. I thought that those were celiac things. Especially the Anti-TTG which indicates auto-immune reaction. I had read previously that non-celiac gluten intolerance didn't produce auto-immune reactions, but celiac -- and only celiac -- does produce auto-immune reaction to gluten. I'm probably missing something. In addition to gluten, I now have to change my diet to eliminate dairy and egg too. (And also walnut and oats, which I find amusing because I've eaten them maybe five times in my life. I hate them both! Not sure how I have been making antibodies to those). Anyway, I'd be interested in any thoughts or answers to these questions. Thanks! A-2) Gluten/Antigenic Food Sensitivity Stool/Gene Panel Fecal Anti-gliadin IgA 19 Units (Normal Range is less than 10 Units) Fecal Anti-casein (cow’s milk) IgA 12 Units (Normal Range is less than 10 Units) Fecal Anti-ovalbumin (chicken egg) IgA 10 Units (Normal Range is less than 10 Units) Fecal Anti-soy IgA 7 Units (Normal Range is less than 10 Units) HLA-DQB1 Molecular analysis, Allele 1 0303 HLA-DQB1 Molecular analysis, Allele 2 0603 Serologic equivalent: HLA-DQ 3,1 (Subtype 9,6) Anti-TissueTransglutaminase Antibody Fecal Anti-tissue Transglutaminase IgA 13 Units (Normal Range is less than 10 Units) C-1) Antigenic Food Sensitivity Stool Panel Mean Value 11 Antigenic Foods 7 Units (Normal Range is less than 10 Units) Within each class of foods to which you displayed multiple reactions, the hierarchy of those reactions detected were as follows: Grains: Grain toward which you displayed the most immunologic reactivity: Oat Nuts: Nut toward which you displayed the most immunologic reactivity: Walnut Fat Malabsorption Stool Test (Fecal Fat) Quantitative Microscopic Fecal Fat Score 504 Units (Normal Range is less than 300 Units)
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