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A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci
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A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci
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Journal Article
A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci
2018
Overview
Primary open-angle glaucoma (POAG) is a leading cause of irreversible vision loss, yet much of the genetic risk remains unaccounted for, especially in African-Americans who have a higher risk for developing POAG. We conduct a multiethnic genome-wide association study (GWAS) of POAG in the GERA cohort, with replication in the UK Biobank (UKB), and vice versa, GWAS in UKB with replication in GERA. We identify 24 loci (
P
< 5.0 × 10
−8
), including 14 novel, of which 9 replicate (near
FMNL2
,
PDE7B
,
TMTC2
,
IKZF2
,
CADM2
,
DGKG
,
ANKH
,
EXOC2
, and
LMX1B
). Functional studies support intraocular pressure-related influences of
FMNL2
and
LMX1B
, with certain
Lmx1b
mutations causing high IOP and glaucoma resembling POAG in mice. The newly identified loci increase the proportion of variance explained in each GERA race/ethnicity group, with the largest gain in African-Americans (0.5–3.1%). A meta-analysis combining GERA and UKB identifies 24 additional loci. Our study provides important insights into glaucoma pathogenesis.
Primary open-angle glaucoma (POAG) leads to progressive vision loss. Here, Choquet et al. perform genome-wide association analysis for POAG in a multi-ethnic cohort, identify a total of nine novel genetic loci and show relevant function of
FMNL2
and
LMX1B
using cell line and mouse experiments.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 38
/ 45
/ 45/43
/ 64
/ 64/60
/ 692/499
/ Aged
/ Animals
/ Female
/ Formins
/ Genetic Predisposition to Disease
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Glaucoma
/ Glaucoma, Open-Angle - genetics
/ Humanities and Social Sciences
/ Humans
/ Intraocular Pressure - genetics
/ LIM-Homeodomain Proteins - genetics
/ Loci
/ Male
/ Mice
/ Mutation
/ Polymorphism, Single Nucleotide
/ Retinal Ganglion Cells - metabolism
/ Risk
/ Science
