补体因子3的变异与年龄相关性黄斑变性的风险相关。
Variation in complement factor 3 is associated with risk of age-related macular degeneration.
作者信息
Maller Julian B, Fagerness Jesen A, Reynolds Robyn C, Neale Benjamin M, Daly Mark J, Seddon Johanna M
机构信息
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
出版信息
Nat Genet. 2007 Oct;39(10):1200-1. doi: 10.1038/ng2131. Epub 2007 Sep 2.
DOI:10.1038/ng2131
PMID:17767156
Abstract
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.
摘要
补体因子H和B中的变异与年龄相关性黄斑变性的关联，已促使人们对补体途径进行更深入的基因和功能分析。我们在一个大型病例对照样本中发现，补体因子3的一个非同义编码变化与年龄相关性黄斑变性风险密切相关。
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