Association assessment of copy number polymorphism and risk of age-related macular degeneration.

ABSTRACT:

Purpose

We previously identified a genetic copy number polymorphism (CNP147) that was statistically associated with age-related macular degeneration (AMD) and that resides downstream of the complement factor H (CFH) gene. Factor H protein is polymorphic at amino acid 402, in which the resulting histidine containing moiety has been established to impart significant risk of AMD. We present a method to precisely determine the exact copy number of CNP147 and examine in more detail the association with AMD.

Design

Case-control study.

Participants

A total of 421 Age-Related Eye Disease Study (AREDS) subjects, of whom approximately 35% were diagnosed with neovascular disease, 19% were diagnosed with geographic atrophy, 16% were diagnosed with both, 30% were diagnosed with la

SUBMITTER: Sawitzke J 

PROVIDER: S-EPMC3223559 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature