Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

ABSTRACT:

Purpose

To investigate whether the 2 subtypes of advanced age-related macular degeneration (AMD), choroidal neovascularization (CNV), and geographic atrophy (GA) segregate separately in families and to identify which genetic variants are associated with these 2 subtypes.

Design

Sibling correlation study and genome-wide association study (GWAS).

Participants

For the sibling correlation study, 209 sibling pairs with advanced AMD were included. For the GWAS, 2594 participants with advanced AMD subtypes and 4134 controls were included. Replication cohorts included 5383 advanced AMD participants and 15 240 controls.

Methods

Participants had the AMD grade assigned based on fundus photography, examination, or both. To determine heritability of advanced AMD subtypes, a

SUBMITTER: Sobrin L 

PROVIDER: S-EPMC3899891 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature