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Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
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Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
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Journal Article
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
2022
Overview
To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five cohorts. We identified 53/c loci affecting hearing loss risk, including common coding variants in
COL9A3
and
TMPRSS3
. Through exome sequencing of 108,415 cases and 329,581 controls, we observed rare coding associations with 11 Mendelian hearing loss genes, including additive effects in known hearing loss genes
GJB2
(Gly12fs; odds ratio [OR] = 1.21,
P
= 4.2 × 10
−11
) and
SLC26A5
(gene burden; OR = 1.96,
P
= 2.8 × 10
−17
). We also identified hearing loss associations with rare coding variants in
FSCN2
(OR = 1.14,
P
= 1.9 × 10
−15
) and
KLHDC7B
(OR = 2.14,
P
= 5.2 × 10
−30
). Our results suggest a shared etiology between Mendelian and common hearing loss in adults. This work illustrates the potential of large-scale exome sequencing to elucidate the genetic architecture of common disorders where both common and rare variation contribute to risk.
A GWAS and exome-wide association study meta-analysis identifies 53 loci affecting hearing loss risk from over half a million individuals across five cohorts. Rare variants in Mendelian hearing loss genes contribute to hearing loss risk in adults.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 38/23
/ 38/43
/ 38/91
/ Biology
/ Biomedical and Life Sciences
/ Etiology
/ Genome-Wide Association Study - methods
/ Genomes
/ Humans
/ Medical Genetics and Genomics (including Gene Therapy)
/ Medicinsk genetik och genomik (Här ingår: Genterapi)
/ Medicinska och farmaceutiska grundvetenskaper
/ Membrane Proteins - genetics
