Complement factor H polymorphism and age-related macular degeneration
Complement factor H polymorphism and age-related macular degeneration
复制标题
DOI：
10.1126/science.1110189
复制
发表时间：
2005-04-15
期刊：
影响因子：
56.9
通讯作者：
Farrer, LA
中科院分区：
文献类型：
--
作者：
Edwards, AO;Ritter, R;Farrer, LA
与年龄相关的黄斑变性（AMD）是具有多种危险因素的常见，晚期且复杂的特征。专注于ARMD1基因座的1q25-31含有AMD的区域的区域，我们测试了两个独立病例对照人群中的单核苷酸多态性与AMD相关。在补体激活基因座的调节中鉴定出显着关联（p = 4.95 x 10（-10）），并以酪氨酸-402->组氨酸-402蛋白多态性为中心。氨基酸位置的一个组氨酸402增加了AMD 2.7倍的风险，可能占AMD归因风险的50％。
Age-related macular degeneration (AMD) is a common, late-onset, and complex trait with multiple risk factors. Concentrating on a region harboring a locus for AMD on 1q25-31, the ARMD1 locus, we tested single-nucleotide polymorphisms for association with AMD in two independent case-control populations. Significant association (P = 4.95 x 10(-10)) was identified within the regulation of complement activation locus and was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD.