Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Virginie J. M. Verhoeven; Pirro G. Hysi; Robert Wojciechowski; Qiao Fan; Jeremy A. Guggenheim; Rene Hoehn; Stuart MacGregor; Alex W. Hewitt; Abhishek Nag; Ching-Yu Cheng; Ekaterina Yonova-Doing; Xin Zhou; M. Kamran Ikram; Gabrielle H. S. Buitendijk; George McMahon; John P. Kemp; Beate St Pourcain; Claire L. Simpson; Karl-Matti Makela; Terho Lehtimaki; Mika Kahonen; Andrew D. Paterson; S. Mohsen Hosseini; Hoi Suen Wong; Liang Xu; Jost B. Jonas; Olavi Parssinen; Juho Wedenoja; Shea Ping Yip; Daniel W. H. Ho; Chi Pui Pang; Li Jia Chen; Kathryn P. Burdon; Jamie E. Craig; Barbara E. K. Klein; Ronald Klein; Toomas Haller; Andres Metspalu; Chiea-Chuen Khor; E-Shyong Tai; Tin Aung; Eranga Vithana; Wan-Ting Tay; Veluchamy A. Barathi; Peng Chen; Ruoying Li; Jiemin Liao; Yingfeng Zheng; Rick T. Ong; Angela Doering; David M. Evans; Nicholas J. Timpson; Annemieke J. M. H. Verkerk; Thomas Meitinger; Olli Raitakari; Felicia Hawthorne; Tim D. Spector; Lennart C. Karssen; Mario Pirastu; Federico Murgia; Wei Ang; Aniket Mishra; Grant W. Montgomery; Craig E. Pennell; Phillippa M. Cumberland; Ioana Cotlarciuc; Paul Mitchell; Jie Jin Wang; Maria Schache; Sarayut Janmahasathian; Robert P. Igo; Jonathan H. Lass; Emily Chew; Sudha K. Iyengar; Theo G. M. F. Gorgels; Igor Rudan; Caroline Hayward; Alan F. Wright; Ozren Polasek; Zoran Vatavuk; James F. Wilson; Brian Fleck; Tanja Zeller; Alireza Mirshahi; Christian Mueller; Andre G. Uitterlinden; Fernando Rivadeneira; Johannes R. Vingerling; Albert Hofman; Ben A. Oostra; Najaf Amin; Arthur A. B. Bergen; Yik-Ying Teo; Jugnoo S. Rahi; Veronique Vitart; Cathy Williams; Paul N. Baird; Tien-Yin Wong; Konrad Oexle; Norbert Pfeiffer; David A. Mackey; Terri L. Young; Cornelia M. van Duijn; Seang-Mei Saw; Joan E. Bailey-Wilson; Dwight Stambolian; Caroline C. Klaver; Christopher J. Hammond; Fuchs' Genetics Multi-Ctr Study Gr; Panos Deloukas

doi:10.1038/ng.2554

$Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia$

Journal article

Peer reviewed

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Virginie J. M. Verhoeven, Pirro G. Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A. Guggenheim, Rene Hoehn, Stuart MacGregor, Alex W. Hewitt, Abhishek Nag, Ching-Yu Cheng, …

Nature genetics, Vol.45(3), pp.314-318

01/03/2013

DOI: https://doi.org/10.1038/ng.2554

PMID: 23396134

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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.

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Title: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Creators - without role: Virginie J. M. Verhoeven - Erasmus MC
Pirro G. Hysi - King's College London
Robert Wojciechowski - National Human Genome Research Institute
Qiao Fan - National University Health System
Jeremy A. Guggenheim - Hong Kong Polytechnic University
Rene Hoehn - College Station Medical Center
Stuart MacGregor - QIMR Berghofer Medical Research Institute
Alex W. Hewitt - Centre for Eye Research Australia
Abhishek Nag - King's College London
Ching-Yu Cheng - National University Health System
Ekaterina Yonova-Doing - King's College London
Xin Zhou - National University Health System
M. Kamran Ikram - National University Health System
Gabrielle H. S. Buitendijk - Erasmus MC
George McMahon - University of Bristol
John P. Kemp - Medical Research Council
Beate St Pourcain - University of Bristol
Claire L. Simpson - National Human Genome Research Institute
Karl-Matti Makela - University of Tampere
Terho Lehtimaki - Fimlab
Mika Kahonen - Tampere University Hospital
Andrew D. Paterson - University of Toronto
S. Mohsen Hosseini - University of Toronto
Hoi Suen Wong - University of Toronto
Liang Xu - Beijing Tongren Hospital
Jost B. Jonas - Heidelberg University
Olavi Parssinen - University of Jyväskylä
Juho Wedenoja - University of Helsinki
Shea Ping Yip - Hong Kong Polytechnic University
Daniel W. H. Ho - Hong Kong Polytechnic University
Chi Pui Pang - Hong Kong Eye Hospital
Li Jia Chen - Prince of Wales Hospital
Kathryn P. Burdon - Flinders University
Jamie E. Craig - Flinders University
Barbara E. K. Klein - Supreme Council Of Health
Ronald Klein - Supreme Council Of Health
Toomas Haller - University of Tartu
Andres Metspalu - University of Tartu
Chiea-Chuen Khor - Genome Institute of Singapore
E-Shyong Tai - National University Health System
Tin Aung - Singapore Eye Research Institute
Eranga Vithana - Singapore Eye Research Institute
Wan-Ting Tay - Singapore National Eye Center
Veluchamy A. Barathi - National University Health System
Peng Chen - National University Health System
Ruoying Li - National University Health System
Jiemin Liao - National University Health System
Yingfeng Zheng - Singapore National Eye Center
Rick T. Ong - National University Health System
Angela Doering - Helmholtz Zentrum München
David M. Evans - Medical Research Council
Nicholas J. Timpson - Medical Research Council
Annemieke J. M. H. Verkerk - Erasmus MC
Thomas Meitinger - Technical University of Munich
Olli Raitakari - Turku University Hospital
Felicia Hawthorne - Duke Eye Ctr Human Genet, Dept Pediat Ophthalmol, Durham, NC USA
Tim D. Spector - King's College London
Lennart C. Karssen - Erasmus MC
Mario Pirastu - National Research Council
Federico Murgia - National Research Council
Wei Ang - University of Western Australia
Aniket Mishra - QIMR Berghofer Medical Research Institute
Grant W. Montgomery - QIMR Berghofer Medical Research Institute
Craig E. Pennell - University of Western Australia
Phillippa M. Cumberland - Medical Research Council
Ioana Cotlarciuc - Imperial College London
Paul Mitchell - University of Sydney
Jie Jin Wang - Centre for Eye Research Australia
Maria Schache - Centre for Eye Research Australia
Sarayut Janmahasathian - Case Western Reserve University
Robert P. Igo - Case Western Reserve University
Jonathan H. Lass - Case Western Reserve University
Emily Chew - National Eye Institute
Sudha K. Iyengar - Case Western Reserve University
Theo G. M. F. Gorgels - Netherlands Institute for Neuroscience
Igor Rudan - University of Edinburgh
Caroline Hayward - MRC Institute of Genetics and Molecular Medicine
Alan F. Wright - MRC Institute of Genetics and Molecular Medicine
Ozren Polasek - University of Split
Zoran Vatavuk - Sisters of Charity Hospital
James F. Wilson - University of Edinburgh
Brian Fleck - Princess Alexandra Eye Pavilion
Tanja Zeller - Univ Heart Ctr Hamburg, Clin Gen & Intervent Cardiol, Hamburg, Germany
Alireza Mirshahi - University Medical Center of the Johannes Gutenberg University Mainz
Christian Mueller - Univ Heart Ctr Hamburg, Clin Gen & Intervent Cardiol, Hamburg, Germany
Andre G. Uitterlinden - Netherlands Consortium for Healthy Ageing
Fernando Rivadeneira - Erasmus MC
Johannes R. Vingerling - Erasmus MC
Albert Hofman - Erasmus MC
Ben A. Oostra - Erasmus MC
Najaf Amin - Erasmus MC
Arthur A. B. Bergen - Royal Netherlands Academy of Arts and Sciences
Yik-Ying Teo - National University Health System
Jugnoo S. Rahi - QIMR Berghofer Medical Research Institute
Veronique Vitart - MRC Institute of Genetics and Molecular Medicine
Cathy Williams - University of Bristol
Paul N. Baird - University of Melbourne
Tien-Yin Wong - National University Health System
Konrad Oexle - Technical University of Munich
Norbert Pfeiffer - University Medical Center of the Johannes Gutenberg University Mainz
David A. Mackey - University of Melbourne
Terri L. Young - Duke Eye Ctr Human Genet, Dept Pediat Ophthalmol, Durham, NC USA
Cornelia M. van Duijn - Erasmus MC
Seang-Mei Saw - Supreme Council Of Health
Joan E. Bailey-Wilson - NHGRI, Inherited Dis Res Branch, US Natl Inst Hlth, Baltimore, MD USA
Dwight Stambolian - Univ Penn, Dept Ophthalmol, Philadelphia, PA 19104 USA
Caroline C. Klaver - Erasmus MC
Christopher J. Hammond - Supreme Council Of Health
Fuchs' Genetics Multi-Ctr Study Gr
Panos Deloukas - King Abdulaziz University
Publication Details: Nature genetics, Vol.45(3), pp.314-318
Publisher: Springer Nature
Number of pages: 5
Grant note: UL1TR000041 / NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Advancing Translational Sciences (NCATS) N01HC25195; N02HL64278 / NHLBI NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI) R01 DK077510; N01DK62204; N01 DK062204-A / NIDDK NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) SRF/01/010 / National Institute for Health Research; National Institute for Health Research (NIHR) 090532; 076113; 085475B08Z; 092731; 083478; WT083431MA; 08547508Z; 076467 / Wellcome Trust; European Commission UL1 TR000041; UL1 TR001449 / NCATS NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Advancing Translational Sciences (NCATS) Intramural NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA MC_PC_U127561128 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) 1329/30 / Fight for Sight R01EY020483 / NATIONAL EYE INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Eye Institute (NEI) N01HC025195 / DIVISION OF EPIDEMIOLOGY AND CLINICAL APPLICATIONS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Eye Institute (NEI) 4882; G9815508; MC_U127584475; MC_PC_U127561128 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC); European Commission K08 EY022943; P30EY11373; 1R01EY018246; EY016379; R21EY015145; N01EY22112; R01 EY016482; R01 EY018246; P30 EY014800; R01EY16482; N01EY92109; R01EY03083; R01EY01824601; R01EY020483; R01 EY020483; R01 EY023196; 1K08EY02294301 / NEI NIH HHS; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Eye Institute (NEI) ZIAHG200327 / NATIONAL HUMAN GENOME RESEARCH INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) CDF-2009-02-35; SRF/01/010 / Department of Health; European Commission R01DK077510 / NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) CZB/4/710; CZB/4/438 / Chief Scientist Office R01HL064278 / NATIONAL HEART, LUNG, AND BLOOD INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI)
Identifiers: 9937729108331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article