Genes Immun. 2009 Jan;10(1):11-4. doi: 10.1038/gene.2008.83. Epub 2008 Nov 6.
Familial clustering of autoimmune disease is well recognized and raises the possibility that some susceptibility genes may predispose to autoimmunity in general. In light of this observation, it might be expected that some of the variants of established relevance in one autoimmune disease may also be relevant in other related conditions. On the basis of this hypothesis, we tested seven single nucleotide polymorphisms (SNPs) that are known to be associated with type I diabetes in a large multiple sclerosis data set consisting of 2369 trio families, 5737 cases and 10,296 unrelated controls. Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 from the CLEC16A gene (P=1.6 x 10(-16)) and rs763361 from the CD226 gene (P=5.4 x 10(-8)). These findings thereby identify two additional multiple sclerosis susceptibility genes and lend support to the notion of autoimmune susceptibility genes.
自身免疫性疾病的家族聚集现象已得到充分认识,这增加了某些易感基因可能总体上易患自身免疫性疾病的可能性。鉴于这一观察结果,可以预期,在一种自身免疫性疾病中已确定相关的一些变体在其他相关疾病中也可能相关。基于这一假设,我们在一个由2369个三联体家庭、5737例病例和10296例无关对照组成的大型多发性硬化症数据集中,测试了七种已知与I型糖尿病相关的单核苷酸多态性(SNP)。这七种SNP中的两种显示出与多发性硬化症相关的证据;即来自CLEC16A基因的rs12708716(P = 1.6 x 10(-16))和来自CD226基因的rs763361(P = 5.4 x 10(-8))。这些发现从而确定了另外两个多发性硬化症易感基因,并支持了自身免疫易感基因的概念。