期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 79, 期 4, 页码 614-627出版社
CELL PRESS
DOI: 10.1086/507876
关键词
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资金
- NIAID NIH HHS [U54 AI054523, 5U54AI054523, 5K08AI056092, K08 AI056092] Funding Source: Medline
- NIDDK NIH HHS [DK532004, R01 DK026190, DK26190] Funding Source: Medline
We mapped the genetic influences for type 1 diabetes (T1D), using 2,360 single-nucleotide polymorphism ( SNP) markers in the 4.4-Mb human major histocompatibility complex (MHC) locus and the adjacent 493 kb centromeric to the MHC, initially in a survey of 363 Swedish T1D cases and controls. We confirmed prior studies showing association with T1D in the MHC, most significantly near HLA-DR/DQ. In the region centromeric to the MHC, we identified a peak of association within the inositol 1,4,5-triphosphate receptor 3 gene (ITPR3; formerly IP3R3). The most significant single SNP in this region was at the center of the ITPR3 peak of association (P = 1.7 x 10(-4) the survey study). For validation, we typed an additional 761 Swedish individuals. The P value for association computed from all 1,124 individuals was (recessive odds ratio 2.5; 95% confidence interval [CI] 1.7 - 3.9). The estimated population-attributable risk 1.30 x 10(-6) of 21.6% (95% CI 10.0% - 31.0%) suggests that variation within ITPR3 reflects an important contribution to T1D in Sweden. Two-locus regression analysis supports an influence of ITPR3 variation on T1D that is distinct from that of any MHC class II gene.
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