LOC387715/HTRA1 and Complement Factor H Variants in Patients with Age-Related Macular Degeneration Seen at the Mayo Clinic

Abstract

Purpose: To confirm association of the complement factor H allelic variant (CFH Y402H) and the LOC387715/HTRA1 (LOC387715 A69S) risk alleles with age-related macular degeneration (AMD). Study Population: Study of 89 Caucasian patients with neovascular (exudative) AMD and 232 Caucasian controls.Methods: The Y402H variant of CFH gene and A69S variant of LOC387715/HTRA1 gene locus were examined.Results: For CFH, the odds ratio for the homozygous variant was 4.97 (CI 2.52 to 9.79). For LOC387715/HTRA1 the odds ratio for the homozygous risk variant was 7.75 (CI 3.46 to 17.35). The odds ratio for heterozygous carriers was 3.35 (CI 1.91 to 5.90).

keywords:

• Age-related macular degeneration
• genetics
• complement H
• association study