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.
- 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
- April 15, 2005
Volume / Issue
- 308 / 5720
Start / End Page
- 419 - 421
Electronic International Standard Serial Number (EISSN)
Digital Object Identifier (DOI)
- United States