@article{f0c6c0b6f1304bd8bc5c2dc4b5fe7eba,
title = "Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia",
abstract = "Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia.",
author = "{Consortium for Refractive Error and Myopia (CREAM)} and {The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group} and {Wellcome Trust Case Control Consortium 2 (WTCCC2)} and Verhoeven, {Virginie J.M.} and Hysi, {Pirro G.} and Robert Wojciechowski and Qiao Fan and Guggenheim, {Jeremy A.} and Ren{\'e} H{\"o}hn and Stuart Macgregor and Hewitt, {Alex W.} and Abhishek Nag and Cheng, {Ching Yu} and Ekaterina Yonova-Doing and Xin Zhou and Ikram, {M. Kamran} and Buitendijk, {Gabri{\"e}lle H.S.} and George Mcmahon and Kemp, {John P.} and Pourcain, {Beate St} and Simpson, {Claire L.} and M{\"a}kel{\"a}, {Kari Matti} and Terho Lehtim{\"a}ki and Mika K{\"a}h{\"o}nen and Paterson, {Andrew D.} and Hosseini, {S. Mohsen} and Wong, {Hoi Suen} and Liang Xu and Jonas, {Jost B.} and Olavi P{\"a}rssinen and Juho Wedenoja and Yip, {Shea Ping} and Ho, {Daniel W.H.} and Pang, {Chi Pui} and Chen, {Li Jia} and Burdon, {Kathryn P.} and Craig, {Jamie E.} and Klein, {Barbara E.K.} and Ronald Klein and Toomas Haller and Andres Metspalu and Khor, {Chiea Chuen} and Tai, {E. Shyong} and Tin Aung and Eranga Vithana and Tay, {Wan Ting} and Barathi, {Veluchamy A.} and Peng Chen and Ruoying Li and Jiemin Liao and Yingfeng Zheng and Ong, {Rick T.} and Thomas Meitinger",
year = "2013",
month = mar,
day = "1",
doi = "10.1038/ng.2554",
language = "English",
volume = "45",
pages = "314--318",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "3",
}