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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

  • Article/chapterEnglish

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  • 22 s.

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  • LIBRIS-ID:oai:lup.lub.lu.se:d034a99e-da7a-4a43-bcbb-234df31f8806
  • https://lup.lub.lu.se/record/d034a99e-da7a-4a43-bcbb-234df31f8806URI
  • https://doi.org/10.7554/eLife.89068.1DOI

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  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • 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)
  • 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)
  • 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)
  • Noble, JanelleUniversity of California, San Francisco (author)
  • 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)
  • Blankenhorn, Elizabeth P.Drexel University (author)
  • Parikh, HemangUniversity of South Florida (author)
  • Ziegler, Anette GabrieleHelmholtz Zentrum München,Technical University of Munich,Klinikum rechts der Isar (author)
  • Toppari, JormaUniversity of Turku,Turku University Hospital (author)
  • Akolkar, BeenaNational Institute of Diabetes and Digestive and Kidney Diseases (author)
  • Hagopian, William A.University of Washington (author)
  • Rewers, Marian JUniversity of Colorado (author)
  • Mordes, John P.University of Massachusetts Medical School (author)
  • University of Massachusetts Chan Medical SchoolBrown University (creator_code:org_t)
  • TEDDY Study Group

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  • In:eLife2050-084X

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