Association analyses of rare variants identify two genes associated with refractive error.

ABSTRACT:

Purpose

Genetic variants identified through population-based genome-wide studies are generally of high frequency, exerting their action in the central part of the refractive error spectrum. However, the power to identify associations with variants of lower minor allele frequency is greatly reduced, requiring considerable sample sizes. Here we aim to assess the impact of rare variants on genetic variation of refractive errors in a very large general population cohort.

Methods

Genetic association analyses of non-cyclopaedic autorefraction calculated as mean spherical equivalent (SPHE) used whole-exome sequence genotypic information from 50,893 unrelated participants in the UK Biobank of European ancestry. Gene-based analyses tested for association with SPHE using an optimised

SUBMITTER: Patasova K 

PROVIDER: S-EPMC9499304 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature