Whole exome sequencing of extreme age-related macular degeneration phenotypes.

ABSTRACT:

Purpose

Demographic, environmental, and genetic risk factors for age-related macular degeneration (AMD) have been identified; however, a substantial portion of the variance in AMD disease risk and heritability remains unexplained. To identify AMD risk variants and generate hypotheses for future studies, we performed whole exome sequencing for 75 individuals whose phenotype was not well predicted by their genotype at known risk loci. We hypothesized that these phenotypically extreme individuals were more likely to carry rare risk or protective variants with large effect sizes.

Methods

A genetic risk score was calculated in a case-control set of 864 individuals (467 AMD cases, 397 controls) based on 19 common (≥1% minor allele frequency, MAF) single nucleotide variants previou

SUBMITTER: Sardell RJ 

PROVIDER: S-EPMC5007100 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature