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Genetic Variation W...
Genetic Variation Within the HLA-DRA1 Gene Modulates Susceptibility to Type 1 Diabetes in HLA-DR3 Homozygotes
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- Aydemir, O (author)
- University of Massachusetts Medical School,Univ Massachusetts, MA USA
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- Noble, JA (author)
- Children's Hospital Oakland Research Institute,Childrens Hosp Oakland, CA 94609 USA
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- Bailey, JA (author)
- University of Massachusetts Medical School,Univ Massachusetts, MA USA
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- Lernmark, Åke (author)
- Lund 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
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- Marsh, P (author)
- Karolinska Institutet,Univ Massachusetts, MA USA
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- Andersson Svärd, Agnes (author)
- Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups,Lund Univ, Sweden
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- Bearoff, F (author)
- Drexel University,Drexel Univ, PA 19104 USA
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- Blankenhorn, EP (author)
- Drexel University,Drexel Univ, PA 19104 USA
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- Mordes, JP (author)
- University of Massachusetts Medical School,Univ Massachusetts, MA 01655 USA
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- Persson, M (author)
- Karolinska Institutet,Karolinska Univ Hosp, Sweden
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- Larsson, HE (author)
- Lund Univ, Sweden
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- Forsander, G (author)
- Univ Gothenburg, Sweden; Sahlgrens Univ Hosp, Sweden
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- Ivarsson, SA (author)
- Lund Univ, Sweden
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- Ludvigsson, Johnny (author)
- Linköpings universitet,Avdelningen för barns och kvinnors hälsa,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus
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- Marcus, C (author)
- Karolinska Institutet,Karolinska Inst, Sweden
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Carlsson, A (author)
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(creator_code:org_t)
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- 2019-04-08
- 2019
- English.
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In: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 68:7, s. 1523-1527
- Related links:
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http://dx.doi.org/10...
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Abstract
Subject headings
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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Diabetes
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To the university's database
- By the author/editor
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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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show more...
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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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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
- Articles in the publication
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Diabetes
- By the university
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Karolinska Institutet
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Lund University
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Linköping University