Complement factor H variant increases the risk of age-related macular degeneration.

Journal Article (Journal Article)

Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness in the elderly whose etiology remains largely unknown. Previous studies identified chromosome 1q32 as harboring a susceptibility locus for AMD. We used single-nucleotide polymorphisms to interrogate this region and identified a strongly associated haplotype in two independent data sets. DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57. This common variant likely explains approximately 43% of AMD in older adults.

Full Text

Duke Authors

Cited Authors

  • Haines, JL; Hauser, MA; Schmidt, S; Scott, WK; Olson, LM; Gallins, P; Spencer, KL; Kwan, SY; Noureddine, M; Gilbert, JR; Schnetz-Boutaud, N; Agarwal, A; Postel, EA; Pericak-Vance, MA

Published Date

  • April 15, 2005

Published In

Volume / Issue

  • 308 / 5720

Start / End Page

  • 419 - 421

PubMed ID

  • 15761120

Electronic International Standard Serial Number (EISSN)

  • 1095-9203

Digital Object Identifier (DOI)

  • 10.1126/science.1110359


  • eng

Conference Location

  • United States