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

Julian B Maller; Jesen A Fagerness; Robyn C Reynolds; Benjamin M Neale; Mark J Daly; Johanna M Seddon

doi:10.1038/ng2131

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

Nat Genet. 2007 Oct;39(10):1200-1. doi: 10.1038/ng2131. Epub 2007 Sep 2.

Authors

Julian B Maller¹, Jesen A Fagerness, Robyn C Reynolds, Benjamin M Neale, Mark J Daly, Johanna M Seddon

Affiliation

¹ Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

PMID: 17767156
DOI: 10.1038/ng2131

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Case-Control Studies
Complement C3 / genetics*
Genetic Variation*
Humans
Macular Degeneration / genetics*
Risk Factors

Substances

Complement C3

Abstract

Publication types

MeSH terms

Substances

Grants and funding