Genetic Risk in Families with Age-Related Macular Degeneration.

ABSTRACT:

Purpose

To determine the contribution of common and rare genetic risk variants in families with age-related macular degeneration (AMD).

Design

Case-control study.

Participants

A family cohort (355 affected and 342 unaffected family members from 144 families with AMD) and an unrelated case-control cohort (1078 patients, 952 controls), recruited from the European Genetic Database.

Methods

Genetic data of both cohorts were filtered for carriership of rare genetic variants in the coding and splice-site regions of the complement factor H (CFH) and complement factor I (CFI) genes, and 52 AMD-associated variants were extracted for calculation of genetic risk scores (GRS). To compare GRSs between familial and nonfamilial rare CFH and CFI var

SUBMITTER: de Breuk A 

PROVIDER: S-EPMC9562327 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature