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Polymorphisms in In...
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Aydemir, ÖzkanUniversity of Massachusetts Chan Medical School
(author)
Polymorphisms in Intron 1 of HLA-DRA Differentially Associate with Type 1 Diabetes and Celiac Disease and Implicate Involvement of Complement System Genes C4A and C4B
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LIBRIS-ID:oai:lup.lub.lu.se:d034a99e-da7a-4a43-bcbb-234df31f8806
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https://lup.lub.lu.se/record/d034a99e-da7a-4a43-bcbb-234df31f8806URI
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https://doi.org/10.7554/eLife.89068.1DOI
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
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Polymorphisms in genes in the human leukocyte antigen (HLA) class II region comprise the most important inherited risk factors for many autoimmune diseases including type 1 diabetes (T1D) and celiac disease (CD): both diseases are positively associated with the HLA- DR3 haplotype (DRB1*03:01-DQA1*05:01-DQB1*02:01). Studies of two different populations have recently documented that T1D susceptibility in HLA-DR3 homozygous individuals isstratified by a haplotype consisting of three single nucleotide polymorphisms (“tri-SNP”) in intron 1 of the HLA-DRA gene. In this study, we use a large cohort from the longitudinal “The Environmental Determinants of Diabetes in the Young” (TEDDY) study to further refine the tri-SNP association with T1D and with autoantibody-defined T1D endotypes. We found that the tri-SNP association is primarily in subjects whose first-appearing T1D autoantibody is to insulin. In addition, we discovered that the tri-SNP is also associated with celiac disease (CD), and that the particular tri-SNP haplotype (“101”) that is negatively associated with T1D risk is positively associated with risk for CD. The opposite effect of the tri-SNP haplotype on two DR3-associated diseases can enhance and refine current models of disease prediction based on genetic risk. Finally, we investigated possible functional differences between the individuals carrying high and low-risk tri-SNP haplotypes, and found that differences in complement system genes C4A and C4B may underlie the observed divergence in disease risk.
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Bailey, Jeffrey ABrown University
(author)
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Agardh, DanielLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Department of Clinical Sciences, Malmö,Faculty of Medicine,Celiac Disease and Diabetes Unit,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-dia
(author)
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Lernmark, AkeLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Department of Clinical Sciences, Malmö,Faculty of Medicine,Celiac Disease and Diabetes Unit,Lund University Research Groups,Skåne University Hospital(Swepub:lu)endo-ale
(author)
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Noble, JanelleUniversity of California, San Francisco
(author)
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Andersson Svärd, AgnesLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Pediatrisk endokrinologi,Forskargrupper vid Lunds universitet,Department of Clinical Sciences, Malmö,Faculty of Medicine,Paediatric Endocrinology,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-aa24
(author)
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Blankenhorn, Elizabeth P.Drexel University
(author)
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Parikh, HemangUniversity of South Florida
(author)
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Ziegler, Anette GabrieleHelmholtz Zentrum München,Technical University of Munich,Klinikum rechts der Isar
(author)
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Toppari, JormaUniversity of Turku,Turku University Hospital
(author)
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Akolkar, BeenaNational Institute of Diabetes and Digestive and Kidney Diseases
(author)
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Hagopian, William A.University of Washington
(author)
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Rewers, Marian JUniversity of Colorado
(author)
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Mordes, John P.University of Massachusetts Medical School
(author)
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University of Massachusetts Chan Medical SchoolBrown University
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TEDDY Study Group
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Aydemir, Özkan
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Bailey, Jeffrey ...
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Agardh, Daniel
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Lernmark, Ake
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Blankenhorn, Eli ...
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