一项针对非同义单核苷酸多态性的全基因组关联研究在干扰素诱导解旋酶（IFIH1）区域发现了一个1型糖尿病位点。
A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region.
作者信息
Smyth Deborah J, Cooper Jason D, Bailey Rebecca, Field Sarah, Burren Oliver, Smink Luc J, Guja Cristian, Ionescu-Tirgoviste Constantin, Widmer Barry, Dunger David B, Savage David A, Walker Neil M, Clayton David G, Todd John A
机构信息
Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2XY, UK.
出版信息
Nat Genet. 2006 Jun;38(6):617-9. doi: 10.1038/ng1800. Epub 2006 May 14.
In this study we report convincing statistical support for a sixth type 1 diabetes (T1D) locus in the innate immunity viral RNA receptor gene region IFIH1 (also known as mda-5 or Helicard) on chromosome 2q24.3. We found the association in an interim analysis of a genome-wide nonsynonymous SNP (nsSNP) scan, and we validated it in a case-control collection and replicated it in an independent family collection. In 4,253 cases, 5,842 controls and 2,134 parent-child trio genotypes, the risk ratio for the minor allele of the nsSNP rs1990760 A --> G (A946T) was 0.86 (95% confidence interval = 0.82-0.90) at P = 1.42 x 10(-10).
在本研究中，我们报告了令人信服的统计学证据，支持位于2号染色体2q24.3上的天然免疫病毒RNA受体基因区域IFIH1（也称为mda-5或Helicard）中存在第六个1型糖尿病（T1D）位点。我们在全基因组非同义单核苷酸多态性（nsSNP）扫描的中期分析中发现了这种关联，并在病例对照样本集中进行了验证，还在一个独立的家系样本集中进行了重复验证。在4253例病例、5842例对照以及2134个亲子三联体基因型中，nsSNP rs1990760 A→G（A946T）的次要等位基因的风险比为0.86（95%置信区间=0.82 - 0.90），P值为1.42×10⁻¹⁰。
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