Variation in complement factor 3 is associated with risk of age-related macular degeneration

被引：340

作者：

Maller, Julian B.

Fagerness, Jesen A.

Reynolds, Robyn C.

Neale, Benjamin M.

Daly, Mark J.

Seddon, Johanna M. ^{[1
]}

机构：

[1] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA

[2] MIT, Broad Inst Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA

[3] Tufts Univ New England Med Ctr, New England Eye Ctr, Ophthal Epidemiol & Genet Serv, Boston, MA 02111 USA

[4] Kings Coll London, Inst Psychiat, Social Genet & Dev Psychiat Ctr, London SE5 8AP, England

[5] Harvard Univ, Sch Med, Boston, MA 02115 USA

来源：

NATURE GENETICS | 2007年 / 39卷 / 10期

关键词：

D O I：

10.1038/ng2131

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1200 / 1201

页数：2

共 14 条

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