SCGB3A2——一个与多人群、不同种族的Graves病发生密切相关的基因

SCGB3A2： A validated susceptibility gene to Graves＇ disease in different ethnic populations

Graves病（GD），也称弥漫性甲状腺肿伴甲状腺功能亢进症，是一种由环境和遗传因素共同致病的多基因疾病。在目前公认的9个GD易感基因中，SCGB3A2是唯一一个利用标签单核苷酸多态性（tagSNP）技术、通过定位克隆策略识别鉴定的一个易感基因，并随后在英国和俄罗斯两个独立样本的研究中得到证实。目前多基因疾病研究专家一致认为SCGB3A2是GD的一个新的致病易感基因。

Graves′ disease is a common autoimmune disease triggered by the susceptibility genes and environmental factors. Among the 9 risk genes related to Graves′ disease, SCGB3A2 is the first Graves′ disease-predisposing gene identified by our group using tagSNPs, strategy of candidate genes, and positional clones. The association between SCGB3A2 and Graves′ disease has been confirmed by two independent cohorts from UK and Russia. So far, the geneticists on Graves′ disease regard SCGB3A2 as a validated susceptibility gene of that disease.