A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region
A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region
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DOI：
10.1038/ng1800
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发表时间：
2006-06-01
期刊：
影响因子：
30.8
通讯作者：
Todd, John A.
中科院分区：
文献类型：
--
作者：
Smyth, Deborah J.;Cooper, Jason D.;Todd, John A.
在这项研究中，我们报告了令人信服的统计支持第六型1型糖尿病（T1 D）基因座先天免疫病毒RNA受体基因区IFIH 1（也称为mda-5或Helicard）的染色体2q24.3。我们在全基因组非同义SNP（nsSNP）扫描的中期分析中发现了这种关联，我们在病例对照收集中验证了它，并在独立的家庭收集中复制了它。在4，253例病例中，5，842例对照和2，134例亲子三重基因型，nsSNP rs 1990760 A -> G（A946 T）的次要等位基因的风险比为0.86（95%置信区间= 0.82-0.90），P = 1.42 x 10（-10）。
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).