Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration.

ABSTRACT:

Purpose

To investigate the association of rare predicted loss-of-function (pLoF) variants within age-related macular degeneration (AMD) risk loci and AMD sub-phenotypes.

Design

Case-control study.

Participants

Participants of AREDS, AREDS2, and Michigan Genomics Initiative.

Methods

Whole genome sequencing data were analyzed for rare pLoF variants (frequency <0.1%) in the regions of previously identified 52 independent risk variants known to be associated with AMD. Frequency of the rare pLoF variants in cases with intermediate or advanced AMD was compared with controls. Variants were assigned to the complement, extracellular matrix (ECM), lipid, cell survival, immune system, metabolism, or unknown/other pathway. Associations of rare pLoF variant pathways with AM

SUBMITTER: Pietraszkiewicz A 

PROVIDER: S-EPMC5820204 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature