Variation in complement factor 3 is associated with risk of age-related macular degeneration
Variation in complement factor 3 is associated with risk of age-related macular degeneration
复制标题
DOI：
10.1038/ng2131
复制
发表时间：
2007-10-01
期刊：
影响因子：
30.8
通讯作者：
Seddon, Johanna M.
中科院分区：
文献类型：
--
作者：
Maller, Julian B.;Fagerness, Jesen A.;Seddon, Johanna M.
补体因子H和B的变异与年龄相关性黄斑变性的相关性导致了对补体途径的更深入的遗传和功能分析。我们在一个大的病例对照样本中发现补体因子3的非同义编码改变与年龄相关性黄斑变性的风险密切相关。
The association of variants in complement factors H and B with age-related macular degeneration has led to more intense genetic and functional analysis of the complement pathway. We identify a nonsynonymous coding change in complement factor 3 that is strongly associated with risk of age-related macular degeneration in a large case-control sample.