Polymorphim in Complement Factor H and Hemicentin-1 Gene in a Japanee Population With Dry-type Age-related Macular Degeneration

Purpoe To determine whether polymorphim in the Complement Factor H (CFH) gene and the Hemicentin-1 gene at the ARMD1 locu are aociated with dry age-related macular degeneration (AMD) in Japanee patient. Deign Clinically relevant laboratory invetigation. Method Eighty unrelated Japanee patient with dry AMD and 196 Japanee control patient were tudied. Two exon of the CFH gene and four exon of the Hemicentin-1 gene were amplified by polymerae chain reaction and equenced directly. Reult For the CFH gene, the frequency of the previouly reported Tyr402Hi variant wa not ignificantly higher in the AMD group than in the control group (P = .31). In the Hemicentin-1 gene, three equence alteration (Ap5088Val, IV99-13C/T, and Hi5245Gln) were detected, and the originally reported Gln5346Arg wa not detected. Concluion The CFH gene and Hemicentin-1 gene do not appear to be involved in a tatitically ignificant fraction of dry AMD cae in the Japanee population.