A Multiethnic Genome-wide Analysis of 44,039 Individuals Identifies 41 New Loci Associated with Central Corneal Thickness

Overview

Journal Commun Biol

Specialty Biology

Date 2020 Jun 13

PMID 32528159

Citations 22

Authors

Helene Choquet

Ronald B Melles

Jie Yin

Thomas J Hoffmann

Khanh K Thai

Mark N Kvale

Yambazi Banda

Alison J Hardcastle

Stephen J Tuft

M Maria Glymour

Catherine Schaefer

Neil Risch

K Saidas Nair

Pirro G Hysi

Eric Jorgenson

Affiliations

Soon will be listed here.

Abstract

Central corneal thickness (CCT) is one of the most heritable human traits, with broad-sense heritability estimates ranging between 0.68 to 0.95. Despite the high heritability and numerous previous association studies, only 8.5% of CCT variance is currently explained. Here, we report the results of a multiethnic meta-analysis of available genome-wide association studies in which we find association between CCT and 98 genomic loci, of which 41 are novel. Among these loci, 20 were significantly associated with keratoconus, and one (RAPSN rs3740685) was significantly associated with glaucoma after Bonferroni correction. Two-sample Mendelian randomization analysis suggests that thinner CCT does not causally increase the risk of primary open-angle glaucoma. This large CCT study explains up to 14.2% of CCT variance and increases substantially our understanding of the etiology of CCT variation. This may open new avenues of investigation into human ocular traits and their relationship to the risk of vision disorders.

Citing Articles

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