Genentech, Inc., South San Francisco, California, USA.
Nat Genet. 2010 Sep;42(9):777-80. doi: 10.1038/ng.644. Epub 2010 Aug 8.
To understand the genetic predisposition to selective immunoglobulin A deficiency (IgAD), we performed a genome-wide association study in 430 affected individuals (cases) from Sweden and Iceland and 1,090 ethnically matched controls, and we performed replication studies in two independent European cohorts. In addition to the known association of HLA with IgAD, we identified association with a nonsynonymous variant in IFIH1 (rs1990760G>A, P = 7.3 x 10(-10)) which was previously associated with type 1 diabetes and systemic lupus erythematosus. Variants in CLEC16A, another known autoimmunity locus, showed suggestive evidence for association (rs6498142C>G, P = 1.8 x 10(-7)), and 29 additional loci were identified with P < 5 x 10(-5). A survey in IgAD of 118 validated non-HLA autoimmunity loci indicated a significant enrichment for association with autoimmunity loci as compared to non-autoimmunity loci (P = 9.0 x 10(-4)) or random SNPs across the genome (P < 0.0001). These findings support the hypothesis that autoimmune mechanisms may contribute to the pathogenesis of IgAD.
为了了解选择性免疫球蛋白 A 缺乏症 (IgAD) 的遗传易感性,我们在瑞典和冰岛的 430 名受影响个体(病例)和 1090 名种族匹配的对照中进行了全基因组关联研究,并在两个独立的欧洲队列中进行了复制研究。除了已知的 HLA 与 IgAD 相关外,我们还发现了 IFIH1 中的非同义变异与 IgAD 相关(rs1990760G>A,P=7.3x10(-10)),该变异先前与 1 型糖尿病和系统性红斑狼疮相关。另一个已知自身免疫基因座 CLEC16A 的变异也显示出与 IgAD 相关的迹象(rs6498142C>G,P=1.8x10(-7)),并确定了 29 个其他具有 P<5x10(-5)的基因座。在 IgAD 中对 118 个经过验证的非 HLA 自身免疫基因座进行调查表明,与自身免疫基因座相比,与非自身免疫基因座(P=9.0x10(-4))或全基因组中的随机 SNP(P<0.0001)相比,关联具有显著富集。这些发现支持自身免疫机制可能导致 IgAD 发病机制的假说。