Jump to content
This site uses cookies. Continued use is acceptance of our Terms of Use and Privacy Policy. More Info... ×
  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.




  • Celiac.com Sponsor (A1):



    Celiac.com Sponsor (A1-M):


  • Get Celiac.com Updates:
    Help Celiac.com:
    eNewsletter
    Donate
  • Record is Archived

    This article is now archived and is closed to further replies.

    Jefferson Adams
    Jefferson Adams

    Multiple Common Variants for Celiac Disease Influencing Immune Gene Expression

    Reviewed and edited by a celiac disease expert.

    Celiac.com 03/11/2010 - As part of an effort to investigate the possibility of multiple common variants for celiac disease influencing immune gene expression, a team of more than sixty scientists recently worked together to conduct a second-generation genome-wide association study (GWAS) of 4,533 individuals with clinically proven celiac disease, along with 10,750 control subjects.

    They genotyped a total of 113 selected SNPs with PGWAS < 10−4 and 18 SNPs from 14 known loci in another 4,918 confirmed celiac disease patients and 5,684 control subjects. The research team included dozens of scientists associated with a variety of major research institutions, hospitals and clinics.

    Celiac.com Sponsor (A12):
    The GWAS included five European sample collections of celiac disease and control cases, including the celiac disease dataset reported previously. The team's stringent data quality control measures included calling genotypes using a custom algorithm on both large sample sets and, where possible, cases and controls together. The team tested 292,387 non-HLA SNPs from the Illumina Hap300 marker pool for association in 4,533 individuals with celiac disease and 10,750 control subjects of European descent. They also tested another 231,362 additional non-HLA markers from the Illumina Hap550 marker set for association in a subset of 3,796 individuals with celiac disease and 8,154 controls. All markers came from autosomes or the X chromosome. For both datasets, Genotype call rates were >99.9%.

    The study showed over-dispersion factor of association test statistics comparable to that observed in other GWASs of this sample size. Factoring in missing genotypes for 737 cases with celiac disease genotyped on the Hap300 BeadChip and corresponding controls did not change the findings in any meaningful way.Variants from 13 new regions reached genome-wide significance (Pcombined < 5 × 10−8); most contain geneswith immune functions, such as BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1, while ETS1, RUNX3, THEMIS and TNFRSF14 play key roles in thymic T-cell selection.

    The data suggested associations for 13 additional regions. Expression quantitative trait meta-analysis of 1,469 whole blood samples showed that 52.6% of tested loci (20 of 38 loci) had celiac risk variants corresponding with cis gene expression (P < 0.0028, FDR 5%).

    Source:

    • Open Original Shared Link


    User Feedback

    Recommended Comments

    There are no comments to display.



    Guest
    This is now closed for further comments

  • Get Celiac.com Updates:
    Help Celiac.com:
    Donate
  • About Me

    Jefferson Adams

    Jefferson Adams is Celiac.com's senior writer and Digital Content Director. He earned his B.A. and M.F.A. at Arizona State University. His articles, essays, poems, stories and book reviews have appeared in numerous magazines, journals, and websites, including North American Project, Antioch Review, Caliban, Mississippi Review, Slate, and more. He is the author of more than 2,500 articles on celiac disease. His university coursework includes studies in science, scientific methodology, biology, anatomy, physiology, medicine, logic, and advanced research. He previously devised health and medical content for Colgate, Dove, Pfizer, Sharecare, Walgreens, and more. Jefferson has spoken about celiac disease to the media, including an appearance on the KQED radio show Forum, and is the editor of numerous books, including "Cereal Killers" by Scott Adams and Ron Hoggan, Ed.D.

    >VIEW ALL ARTICLES BY JEFFERSON ADAMS

     


  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):





    Celiac.com Sponsors (A17-M):




  • Related Articles

    Jefferson Adams
    Celiac.com 04/22/2011 - A research team recently set out to examine multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations.
    The study team included Elisabet Einarsdottir, Marianna R Bevova, Alexandra Zhernakova, Alienke Monsuur, Lotta LE Koskinen, Ruben van't Slot, Chris Mulder, M Luisa Mearin, Ilma R Korponay-Szabo, Katri Kaukinen, Kalle Kurppa, Juha Kere, Markku Mäki, Cisca Wijmenga and Päivi Saavalainen.
    Studies in Dutch, Finnish and Hungarian populations have shown that a locus on chromosome 6q21-22 carries higher susceptibility to celiac disease.
    This same locus has previously been associated with susceptibility to other autoimmune diseases such as Crohn's disease and type 1 diabetes. ...


    Jefferson Adams
    Celiac.com 12/26/2012 - Currently, researchers have found forty separate gene sites that they associate with celiac disease. They classify all of these sies as "low-penetrance," with the exception of the high-risk genotypes in the HLA-DQA1 and HLA-DQB1 genes, which are necessary, but not sufficient to cause the disease.
    So far, their efforts to find more such sites have been prevented by the strong effects from the known HLA loci and the genetically complex nature of the major histocompatibility complex (MHC).
    A research team wanted to test the hypothesis that additional celiac disease gene sites exist within the extended major histocompatibility complex (xMHC).
    The research team included Richard Ahn, Yuan Chun Ding, Joseph Murray, Alessio Fasano, Peter H. R. Green, Susan L....


  • Recent Activity

    1. - CatherineWang replied to B1rdL0ver's topic in Related Issues & Disorders
      40

      Dealing with constant nausea and just feeling awful.

    2. - cristiana replied to BunnyBrown's topic in Related Issues & Disorders
      3

      Recently had my esophagus dilated

    3. - cristiana replied to twe0708's topic in Post Diagnosis, Recovery & Treatment of Celiac Disease
      54

      How Long Do Celiac Patients Live?

    4. - Exchange Students replied to Exchange Students's topic in Parents, Friends and Loved Ones of Celiacs
      2

      Exchange Students who are celiac in need of host

    5. - Scott Adams replied to Exchange Students's topic in Parents, Friends and Loved Ones of Celiacs
      2

      Exchange Students who are celiac in need of host


  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      120,162
    • Most Online (within 30 mins)
      7,748

    Lenabeana
    Newest Member
    Lenabeana
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      120.2k
    • Total Posts
      1m

  • Celiac.com Sponsor (A22):





  • Celiac.com Sponsor (A21):



  • Popular Now

    • Sunflowers06
      6
    • Momkaren
      10
    • Elizabeth M Blair
      5
    • B1rdL0ver
    • twe0708
      54
  • Popular Articles

    • Scott Adams
    • Scott Adams
    • Scott Adams
    • Scott Adams
    • Scott Adams
  • Upcoming Events

×
×
  • Create New...