Complement factor H polymorphism in age-related macular degeneration
Complement factor H polymorphism in age-related macular degeneration
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DOI：
10.1126/science.1109557
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发表时间：
2005-04-15
期刊：
影响因子：
56.9
通讯作者：
Hoh, J
中科院分区：
文献类型：
--
作者：
Klein, RJ;Zeiss, C;Hoh, J
年龄相关性黄斑变性（AMD）是老年人失明的主要原因。我们报告了96例与AMD相关的多态性的全基因组筛选和50例对照。在116,204个单核苷酸多态性基因分型中，补体因子H基因（CFH）的内含子和常见变异与AMD密切相关（nominal P值）
Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value