Jump to content
  • Join Our Community!

    Do you have questions about celiac disease or the gluten-free diet?

  • Jefferson Adams
    Jefferson Adams

    Celiac Disease Linked to Neanderthal Ancestry

      One of these Neanderthal-inherited haplotypes is unusually long and harbors variants that affect the expression of members of the CCR gene family and are associated with celiac disease.

    Caption: Image: CC--Allan Henderson

    Celiac.com 04/25/2019 - Part of our modern human DNA contains genetic material from a number of what scientists call 'admixture' events, or, more simply, mingling of DNA from Neanderthals that of different populations. Approximately 2–4% of genetic material in human populations outside Africa comes originally from Neanderthals who interbred with anatomically modern humans. 

    Researchers have hypothesized that the first such events likely occurred in Western Asia shortly after humans migrated out of Africa. However, previous studies show lower Neanderthal introgression rates in some Western Asian populations compared with other Eurasian populations. 

    A team of researchers recently set out to better understand the genome-wide and phenotypic impact of Neanderthal introgression in the region. Their research reveals, among other things, that the genes associated with celiac disease are inherited from our Neanderthal ancestors.

    The research team included Recep Ozgur Taskent, Nursen Duha Alioglu, Evrim Fer, Handan Melike Donertas, Mehmet Somel and Omer Gokcumen. They are variously affiliated with the Department of Biological Sciences, University at Buffalo; the Department of Biology, Middle East Technical University, Ankara, Turkey; and the European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.

    To do so, the team sequenced complete genomes of nine present-day Europeans, Africans, and the Western Asian Druze at high depth. They then analyzed genome data from other populations, including 16 genomes from present-day Turkey. 

    The team confirmed the depletion of what are thought to be functional sequences among Neanderthal-introgressed haplotypes. 

    The team's results confirm those of earlier studies that show modern Western Asian populations, on an average, have lower levels of Neanderthal-mingled DNA relative to other Eurasian populations. A number studies have looked at the effects of Neanderthal alleles in non-Neanderthal populations. Some indicate negative effects, with putative links to various diseases as measured by genome-wide association studies (Sankararaman et al. 2014. Simonti et al. 2016).

    For example, according to the researchers: "One of these haplotypes is unusually long and harbors variants that affect the expression of members of the CCR gene family and are associated with celiac disease." Since the genome-wide association studies show that celiac disease is linked with the Neanderthal haplotype, we may have to thank our neanderthal cousins for this disease. 

    Stay tuned for more on the implications of Neanderthal DNA on disease susceptibility in western and other populations.

    Read more at: Genome Biol Evol. 2017 Dec; 9(12): 3516–3524doi: 10.1093/gbe/evx216

    Edited by Jefferson Adams


    User Feedback

    Recommended Comments

    Guest Stella A.

    Posted

    40 minutes ago, Ronnie d said:

    :Dhmm, that explains why I always have the urge to grab a club and bang something with it......lol

    😂 😂 😂 

    Share this comment


    Link to comment
    Share on other sites
    Guest Marcia C.

    Posted

    8 hours ago, Ronnie d said:

    :Dhmm, that explains why I always have the urge to grab a club and bang something with it......lol

    Ha Ha, now that is funny! However, I wonder if only one member out of a family of six is diagnosed with Celiac Disease...does that mean not everyone in the same family has this Neanderthal Haplotype but just me?

    Share this comment


    Link to comment
    Share on other sites


    Join the conversation

    You can post now and register later. If you have an account, sign in now to post with your account.
    Note: Your post will require moderator approval before it will be visible.

    Guest
    Add a comment...

    ×   Pasted as rich text.   Paste as plain text instead

      Only 75 emoji are allowed.

    ×   Your link has been automatically embedded.   Display as a link instead

    ×   Your previous content has been restored.   Clear editor

    ×   You cannot paste images directly. Upload or insert images from URL.


  • About Me

    Jefferson Adams earned his B.A. and M.F.A. at Arizona State University, and has authored more than 2,000 articles on celiac disease. His coursework includes studies in biology, anatomy, medicine, science, and advanced research, and scientific methods. He previously served as Health News Examiner for Examiner.com, and devised health and medical content for Sharecare.com. Jefferson has spoken about celiac disease to the media, including an appearance on the KQED radio show Forum, and is the editor of the book "Cereal Killers" by Scott Adams and Ron Hoggan, Ed.D.

  • Related Articles

    Dr. Scot Lewey
    Ten Facts About Celiac Disease Genetic Testing
    Celiac.com 04/16/2019 (originally published 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. Tests can be done at home and mailed to the lab for analysis.
    A good testing laboratory will provide an accurate prediction of celiac disease risk, and will also provide information about the statistical risk to your children, your likelihood of developing 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.
    DQ2 & DQ8 Not the Whole Story
    About 95% of celiacs carry HLA-DQ2; while about 25% carry HLA-DQ8. If any part of the high risk gene patterns DQ2 and DQ8 is missing, then the likelihood of that person getting celiac disease is 99.9% AGAINST. 
    Negative Genetic Test Only Part of the Story
    However, "negative celiac genetic testing” is not sufficient for entirely ruling out celiac disease. To definitively declare negative celiac genetic tests requires the laboratory to test for 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 many laboratories only test for the beta subunit. Few labs test for both. 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.
    No DQ2 & DQ8 Can Still Mean Gluten Problems
    Data collected by Dr. Ken Fine of Enterolab supports the fact that the absence of DQ2 and DQ8 does not exclude the risk of being gluten intolerance or sensitive, though it is now looks likely that one or both of those genetic white blood cell patterns are required for celiac disease or celiac sprue to develop. 
    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 documented blood test negative celiac sprue, which is also more common in elderly men with long-standing severe disease. 
    Since DQ2 or DQ8 is almost universally present where tissue transglutaminase and anti-endomysial antibodies are present it is not surprising that individuals without DQ2 or DQ8 with negative 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 disease 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 3 or more doctors. Genetic testing can be extremely helpful in determining your risk for celiac disease, potential severity, and risk for 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.
    Important Facts About Celiac Disease:
    Genetic Testing Can Determine Celiac 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.
    Diet Will Not Change Genetic Test Results
    Genetic testing is not affected by diet. You can be eating gluten or on a gluten-free diet. Unlike blood tests for celiac disease antibodies, which require a patient to be eating gluten, genetic tests can be done whether or not the person being tested is eating wheat or gluten. 
    Diagnostic Codes Can Help Secure Insurance Approval
    Many insurance companies pay for celiac genetic testing. Most that pay require pre-authorization. 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 Genetic Labs Perform Limited Tests
    Many 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.
    Negative Results Can Still Mean Celiac in Rare Cases
    In rare cases, some people, especially men, may have a negative genetic test and still have celiac disease. As with blood tests, men more commonly have negative genetic tests, especially older men with long-standing severe disease.
    DQ Type Can Influence Celiac Risk and Severity
    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.
    Negative DQ2 and DQ8 Can Still Mean Gluten Intolerance
    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.
    No Prescription Needed for Genetic Celiac Testing
    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 $99-300 (www.enterolab.com).
    Genetic Testing Labs for Celiac Disease
    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.
    Celiac Genetic Testing 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.  

    Jefferson Adams
    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.

    Jefferson Adams
    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.

    Jefferson Adams
    Researchers Make Major Headway in Mapping Genetic Mutations in EATL
    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.

  • Popular Contributors

  • Forum Discussions

    It is unfortunate that fear of soy has become so popular.  Check out the region around Okinawa, where soy is a foundational food and has been for centuries.  Note that this area is one of the World's green zones where people on average live the longest of all.  This is just one example of an area where soy has been used for a very long time with positive results, or I suppose it is more accurate to say without harmful results.  Of course it is different for those who are medically sensitive to s
    Depends on what kind of Advil.  The gel capsules used to contain gluten from what I recall.  What does the label say?   Here is a list of gluten free pain relievers: https://www.verywellfit.com/gluten-free-pain-relievers-562382  
    https://www.beyondceliac.org/research-news/View-Research-News/1394/postid--114197/?utm_campaign=Research Opt-In&utm_source=hs_email&utm_medium=email&utm_content=72478196&_hsenc=p2ANqtz-8cBCeWpQSG8tjxT3AC5kO9JlVU9sKiGcArKDefDbz0UI0-FrJiSWvmuEAJ7HWszix_3WVyFj1AaK8h8iqwb5bG0LBdew&_hsmi=72478196 A potpourri of issues discussed in this article but here are some things that stood out to me: "Similarly, in Robert’s multinational study reviewing biopsies of patients done initial
×
×
  • Create New...