HTRA1 promoter polymorphism in wet age-related macular degeneration
HTRA1 promoter polymorphism in wet age-related macular degeneration
复制标题
DOI：
10.1126/science.1133807
复制
发表时间：
2006-11-10
期刊：
影响因子：
56.9
通讯作者：
Hoh, Josephine
中科院分区：
文献类型：
--
作者：
DeWan, Andrew;Liu, Mugen;Hoh, Josephine
老年性黄斑变性(AMD)是50岁以上人群中最常见的不可逆性视力丧失的原因，分为湿性(新生血管性)和干性(非新生血管性)。补体因子H基因的遗传变异是干性AMD患者玻璃体形成的主要危险因素。在此，我们报道了位于染色体10q26上的丝氨酸蛋白酶基因HTRA1启动子区域的单核苷酸多态性是湿性AMD的主要遗传危险因素。将全基因组关联作图策略应用于中国人群，得到的P值为<；10(-11)。据估计，携带风险相关基因的个体患湿性AMD的可能性是携带野生型基因的个体的10倍。
Age-related macular degeneration (AMD), the most common cause of irreversible vision loss in individuals aged older than 50 years, is classified as either wet (neovascular) or dry (nonneovascular). Inherited variation in the complement factor H gene is a major risk factor for drusen in dry AMD. Here we report that a single-nucleotide polymorphism in the promoter region of HTRA1, a serine protease gene on chromosome 10q26, is a major genetic risk factor for wet AMD. A whole-genome association mapping strategy was applied to a Chinese population, yielding a P value of < 10(-11). Individuals with the risk-associated genotype were estimated to have a likelihood of developing wet AMD 10 times that of individuals with the wild-type genotype.