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Genetic Variation W...
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Aydemir, OUniversity of Massachusetts Medical School,Univ Massachusetts, MA USA
(author)
Genetic Variation Within the HLA-DRA1 Gene Modulates Susceptibility to Type 1 Diabetes in HLA-DR3 Homozygotes
- Article/chapterEnglish2019
Publisher, publication year, extent ...
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2019-04-08
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American Diabetes Association,2019
Numbers
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:141293614
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http://kipublications.ki.se/Default.aspx?queryparsed=id:141293614URI
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https://doi.org/10.2337/db18-1128DOI
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https://lup.lub.lu.se/record/07d614ee-9e12-4d7a-8c27-8ad22469703fURI
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-158937URI
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
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Funding Agencies|National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Allergy and Infectious Diseases, National Human Genome Research Institute, National Institute of Child Health and Human Development; JDRF; American Diabetes Association [1-19-ICTS-076]; UMass Memorial Healthcare JL Stock Fund; National Institutes of Health [AI 39095]; [U01 DK062418]
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Type 1 diabetes (T1D) involves the interaction of multiple gene variants, environmental factors, and immunoregulatory dysfunction. Major T1D genetic risk loci encode HLA-DR and -DQ. Genetic heterogeneity and linkage disequilibrium in the highly polymorphic HLA region confound attempts to identify additional T1D susceptibility loci. To minimize HLA heterogeneity, T1D patients (N = 365) and control subjects (N = 668) homozygous for the HLA-DR3 high-risk haplotype were selected from multiple large T1D studies and examined to identify new T1D susceptibility loci using molecular inversion probe sequencing technology. We report that risk for T1D in HLA-DR3 homozygotes is increased significantly by a previously unreported haplotype of three single nucleotide polymorphisms (SNPs) within the first intron of HLA-DRA1. The homozygous risk haplotype has an odds ratio of 4.65 relative to the protective homozygous haplotype in our sample. Individually, these SNPs reportedly function as “expression quantitative trait loci,” modulating HLA-DR and -DQ expression. From our analysis of available data, we conclude that the tri-SNP haplotype within HLA-DRA1 may modulate class II expression, suggesting that increased T1D risk could be attributable to regulated expression of class II genes. These findings could help clarify the role of HLA in T1D susceptibility and improve diabetes risk assessment, particularly in high-risk HLA-DR3 homozygous individuals.
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Noble, JAChildren's Hospital Oakland Research Institute,Childrens Hosp Oakland, CA 94609 USA
(author)
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Bailey, JAUniversity of Massachusetts Medical School,Univ Massachusetts, MA USA
(author)
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Lernmark, ÅkeLund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups,Skåne University Hospital,Lund Univ, Sweden(Swepub:lu)endo-ale
(author)
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Marsh, PKarolinska Institutet,Univ Massachusetts, MA USA
(author)
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Andersson Svärd, AgnesLund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups,Lund Univ, Sweden(Swepub:lu)med-aa24
(author)
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Bearoff, FDrexel University,Drexel Univ, PA 19104 USA
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Blankenhorn, EPDrexel University,Drexel Univ, PA 19104 USA
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Mordes, JPUniversity of Massachusetts Medical School,Univ Massachusetts, MA 01655 USA
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Persson, MKarolinska Institutet,Karolinska Univ Hosp, Sweden
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Larsson, HELund Univ, Sweden
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Forsander, GUniv Gothenburg, Sweden; Sahlgrens Univ Hosp, Sweden
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Ivarsson, SALund Univ, Sweden
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Ludvigsson, JohnnyLinköpings universitet,Avdelningen för barns och kvinnors hälsa,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus(Swepub:liu)johlu29
(author)
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Marcus, CKarolinska Institutet,Karolinska Inst, Sweden
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Carlsson, A
(author)
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University of Massachusetts Medical SchoolUniv Massachusetts, MA USA
(creator_code:org_t)
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Better Diabetes Diagnosis (BDD) Study Group
Related titles
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In:Diabetes: American Diabetes Association68:7, s. 1523-15271939-327X0012-1797
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Aydemir, O
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Noble, JA
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Bailey, JA
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Lernmark, Åke
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Marsh, P
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Andersson Svärd, ...
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Bearoff, F
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Blankenhorn, EP
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Mordes, JP
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Persson, M
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Larsson, HE
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Forsander, G
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Ivarsson, SA
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Ludvigsson, John ...
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Marcus, C
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Carlsson, A
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