The expanding genetic overlap between multiple sclerosis and type I diabetes
The expanding genetic overlap between multiple sclerosis and type I diabetes
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DOI：
10.1038/gene.2008.83
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发表时间：
2009-01-01
影响因子：
5
通讯作者：
Haines, Jonathan
中科院分区：
文献类型：
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作者：
Booth, David R.;Heard, Robert N.;Haines, Jonathan
自身免疫性疾病的家族聚集性是公认的，并提出了一些易感基因可能倾向于自身免疫的可能性。鉴于这一观察结果，可以预期在一种自身免疫性疾病中确定相关性的一些变体也可能在其他相关病症中相关。在此假设的基础上，我们测试了7个单核苷酸多态性（SNPs），这是已知的与I型糖尿病在一个大型的多发性硬化症的数据集，包括2369三人家庭，5737例和10296无关的控制。这7个SNPs中有2个显示出与多发性硬化相关的证据;即CLEC 16 A基因的rs 12708716（P=1.6 x 10（-16））和CD 226基因的rs763361（P = 5.4 x 10（-8））。因此，这些发现确定了另外两个多发性硬化症易感基因，并支持自身免疫易感基因的概念。
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.