Genomic-Metabolomic Associations Support the Role of LIPC and Glycerophospholipids in Age-Related Macular Degeneration.

ABSTRACT:

Purpose

Large-scale genome-wide association studies (GWAS) have reported important single nucleotide polymorphisms (SNPs) with significant associations with age-related macular degeneration (AMD). However, their role in disease development remains elusive. This study aimed to assess SNP-metabolite associations (i.e., metabolite quantitative trait loci [met-QTL]) and to provide insights into the biological mechanisms of AMD risk SNPs.

Design

Cross-sectional multicenter study (Boston, Massachusetts, and Coimbra, Portugal).

Participants

Patients with AMD (n = 388) and control participants (n = 98) without any vitreoretinal disease (> 50 years).

Methods

Age-related macular degeneration grading was performed using color fundus photographs according to the Age-Relate

SUBMITTER: Lains I 

PROVIDER: S-EPMC8353724 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature