Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

doi:10.1038/s42003-022-04323-7

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Article

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Communications biology - 3 Jan 2023

Musolf Anthony M, Haarman Annechien E G, Luben Robert N, Ong Jue-Sheng, Patasova Karina, Trapero Rolando Hernandez, Marsh Joseph, Jain Ishika, Jain Riya, Wang Paul Zhiping, Lewis Deyana D, Tedja Milly S, Iglesias Adriana I, Li Hengtong, Cowan Cameron S, Biino Ginevra, Klein Alison P, Duggal Priya, Mackey David A, Hayward Caroline, Haller Toomas, Metspalu Andres, Wedenoja Juho, Pärssinen Olavi, Cheng Ching-Yu, Saw Seang-Mei, Stambolian Dwight, Hysi Pirro G, Khawaja Anthony P, Vitart Veronique, Hammond Christopher J, van Duijn Cornelia M, Verhoeven Virginie J M, Klaver Caroline C W, Bailey-Wilson Joan E

Abstract excerpt

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is...

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Identifiers

PMID: 36596879
DOI: 10.1038/s42003-022-04323-7
PMCID: PMC9810640

Genes

MAF
P4HTM
PDCD6IP
PER3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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