Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish.

ABSTRACT: Age-related macular degeneration (AMD) is a leading cause of blindness in the world. While dozens of independent genomic variants are associated with AMD, about one-third of AMD heritability is still unexplained. To identify novel variants and loci for AMD, we analyzed Illumina HumanExome chip data from 87 Amish individuals with early or late AMD, 79 unaffected Amish individuals, and 15 related Amish individuals with unknown AMD affection status. We retained 37,428 polymorphic autosomal variants across 175 samples for association and linkage analyses. After correcting for multiple testing (n = 37,428), we identified four variants significantly associated with AMD: rs200437673 (LCN9, p = 1.50 × 10^-11), rs151214675 (RTEL1, p = 3.18 × 10^-8), rs140250387 (DLGAP1, p = 4.49

SUBMITTER: Waksmunski AR 

PROVIDER: S-EPMC6745026 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature