Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

Ching-Yu Cheng; Maria Schache; M. Kamran Ikram; Terri L. Young; Jeremy A. Guggenheim; Veronique Vitart; Stuart MacGregor; Virginie J.M. Verhoeven; Veluchamy A. Barathi; Jiemin Liao; Pirro G. Hysi; Joan E. Bailey-Wilson; Beate St. Pourcain; John P. Kemp; George McMahon; Nicholas J. Timpson; David M. Evans; Grant W. Montgomery; Aniket Mishra; Ya Xing Wang; Jie Jin Wang; Elena Rochtchina; Ozren Polasek; Alan F. Wright; Najaf Amin; Elisabeth M. van Leeuwen; James F. Wilson; Craig E. Pennell; Cornelia M. van Duijn; Paulus T.V.M. de Jong; Johannes R. Vingerling; Xin Zhou; Peng Chen; Ruoying Li; Wan-Ting Tay; Yingfeng Zheng; Merwyn Chew; Kathryn P. Burdon; Jamie E. Craig; Sudha K. Iyengar; Robert P. Igo; Jonathan H. Lass; Emily Y. Chew; Toomas Haller; Evelin Mihailov; Andres Metspalu; Juho Wedenoja; Claire L. Simpson; Robert Wojciechowski; René Höhn; Alireza Mirshahi; Tanja Zeller; Norbert Pfeiffer; Karl J. Lackner; Thomas Bettecken; Thomas Meitinger; Konrad Oexle; Mario Pirastu; Laura Portas; Abhishek Nag; Katie M. Williams; Ekaterina Yonova-Doing; Ronald Klein; Barbara E. Klein; S. Mohsen Hosseini; Andrew D. Paterson; Kari-Matti Makela; Terho Lehtimaki; Mika Kahonen; Olli Raitakari; Nagahisa Yoshimura; Fumihiko Matsuda; Li Jia Chen; Chi Pui Pang; Shea Ping Yip; Maurice K.H. Yap; Akira Meguro; Nobuhisa Mizuki; Hidetoshi Inoko; Paul J. Foster; Jing Hua Zhao; Eranga Vithana; E-Shyong Tai; Qiao Fan; Liang Xu; Harry Campbell; Brian Fleck; Igor Rudan; Tin Aung; Albert Hofman; André G. Uitterlinden; Goran Bencic; Chiea-Chuen Khor; Hannah Forward; Olavi Pärssinen; Paul Mitchell; Fernando Rivadeneira; Alex W. Hewitt; Cathy Williams; Ben A. Oostra; Yik-Ying Teo; Christopher J. Hammond; Dwight Stambolian; David A. Mackey; Molecular Risk Factors Program Project; Caroline C.W. Klaver; Tien-Yin Wong; Eduardo C Alfonso; Seang-Mei Saw; Paul N. Baird

doi:10.1016/j.ajhg.2013.06.016

$Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error$

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Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error

Ching-Yu Cheng, Maria Schache, M. Kamran Ikram, Terri L. Young, Jeremy A. Guggenheim, Veronique Vitart, Stuart MacGregor, Virginie J.M. Verhoeven, Veluchamy A. Barathi, Jiemin Liao, …

American journal of human genetics, Vol.93(2), pp.264-277

2013-08-08

DOI: https://doi.org/10.1016/j.ajhg.2013.06.016

PMCID: PMC3772747

PMID: 24144296

Abstract

Refractive errors are common eye disorders of public health importance worldwide. Ocular axial length (AL) is the major determinant of refraction and thus of myopia and hyperopia. We conducted a meta-analysis of genome-wide association studies for AL, combining 12,531 Europeans and 8,216 Asians. We identified eight genome-wide significant loci for AL ( RSPO1, C3orf26, LAMA2, GJD2 , ZNRF3 , CD55 , MIP , and ALPPL2 ) and confirmed one previously reported AL locus ( ZC3H11B ). Of the nine loci, five ( LAMA2, GJD2, CD55, ALPPL2 , and ZC3H11B ) were associated with refraction in 18 independent cohorts (n = 23,591). Differential gene expression was observed for these loci in minus-lens-induced myopia mouse experiments and human ocular tissues. Two of the AL genes, RSPO1 and ZNRF3, are involved in Wnt signaling, a pathway playing a major role in the regulation of eyeball size. This study provides evidence of shared genes between AL and refraction, but importantly also suggests that these traits may have unique pathways.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.36 Ophthalmology; 1.36.813 Myopia
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
Creators: Ching-Yu Cheng - National University of Singapore
Maria Schache - University of Melbourne
M. Kamran Ikram - University of Wisconsin School of Medicine and Public Health
Terri L. Young - University of Wisconsin School of Medicine and Public Health
Jeremy A. Guggenheim - University of Wisconsin School of Medicine and Public Health
Veronique Vitart - University of Edinburgh
Stuart MacGregor - QIMR Berghofer Medical Research Institute
Virginie J.M. Verhoeven - University of Wisconsin School of Medicine and Public Health
Veluchamy A. Barathi - University of Wisconsin School of Medicine and Public Health
Jiemin Liao - National University of Singapore
Pirro G. Hysi - University of Wisconsin School of Medicine and Public Health
Joan E. Bailey-Wilson - University of Wisconsin School of Medicine and Public Health
Beate St. Pourcain - University of Wisconsin School of Medicine and Public Health
John P. Kemp - University of Wisconsin School of Medicine and Public Health
George McMahon - University of Bristol
Nicholas J. Timpson - University of Wisconsin School of Medicine and Public Health
David M. Evans - University of Wisconsin School of Medicine and Public Health
Grant W. Montgomery - University of Wisconsin School of Medicine and Public Health
Aniket Mishra - QIMR Berghofer Medical Research Institute
Ya Xing Wang - University of Wisconsin School of Medicine and Public Health
Jie Jin Wang - University of Wisconsin School of Medicine and Public Health
Elena Rochtchina - University of Sydney
Ozren Polasek - University of Split
Alan F. Wright - University of Wisconsin School of Medicine and Public Health
Najaf Amin - Erasmus University Rotterdam
Elisabeth M. van Leeuwen - University of Wisconsin School of Medicine and Public Health
James F. Wilson - University of Wisconsin School of Medicine and Public Health
Craig E. Pennell - University of Wisconsin School of Medicine and Public Health
Cornelia M. van Duijn - University of Wisconsin School of Medicine and Public Health
Paulus T.V.M. de Jong - University of Wisconsin School of Medicine and Public Health
Johannes R. Vingerling - University of Wisconsin School of Medicine and Public Health
Xin Zhou - National University of Singapore
Peng Chen - National University of Singapore
Ruoying Li - National University of Singapore
Wan-Ting Tay - Singapore National Eye Center
Yingfeng Zheng - Singapore National Eye Center
Merwyn Chew - Singapore National Eye Center
Kathryn P. Burdon - Flinders University
Jamie E. Craig - Flinders University
Sudha K. Iyengar - Case Western Reserve University
Robert P. Igo - Case Western Reserve University
Jonathan H. Lass - Case Western Reserve University
Emily Y. Chew - National Institutes of Health
Toomas Haller - University of Tartu
Evelin Mihailov - University of Tartu
Andres Metspalu - University of Tartu
Juho Wedenoja - University of Helsinki
Claire L. Simpson - National Institutes of Health
Robert Wojciechowski - Johns Hopkins University
René Höhn - University of Wisconsin School of Medicine and Public Health
Alireza Mirshahi - Johannes Gutenberg University Mainz
Tanja Zeller - Universität Hamburg
Norbert Pfeiffer - Johannes Gutenberg University Mainz
Karl J. Lackner - Johannes Gutenberg University Mainz
Thomas Bettecken - Leiden University
Thomas Meitinger - Technical University of Munich
Konrad Oexle - Technical University of Munich
Mario Pirastu - National Academies of Sciences, Engineering, and Medicine
Laura Portas - National Academies of Sciences, Engineering, and Medicine
Abhishek Nag - King's College London
Katie M. Williams - King's College London
Ekaterina Yonova-Doing - King's College London
Ronald Klein - University of Wisconsin–Madison
Barbara E. Klein - University of Wisconsin–Madison
S. Mohsen Hosseini - University of Toronto
Andrew D. Paterson - University of Toronto
Kari-Matti Makela - University of Wisconsin School of Medicine and Public Health
Terho Lehtimaki - University of Wisconsin School of Medicine and Public Health
Mika Kahonen - University of Wisconsin School of Medicine and Public Health
Olli Raitakari - University of Turku
Nagahisa Yoshimura - Kyoto University
Fumihiko Matsuda - Kyoto University
Li Jia Chen - Chinese University of Hong Kong
Chi Pui Pang - Chinese University of Hong Kong
Shea Ping Yip - Hong Kong Polytechnic University
Maurice K.H. Yap - University of Wisconsin School of Medicine and Public Health
Akira Meguro - Yokohama City University
Nobuhisa Mizuki - Yokohama City University
Hidetoshi Inoko - Tokai University
Paul J. Foster - Moorfields Eye Hospital NHS Foundation Trust
Jing Hua Zhao - University of Cambridge
Eranga Vithana - Singapore National Eye Center
E-Shyong Tai - National University of Singapore
Qiao Fan - National University of Singapore
Liang Xu - Capital Medical University
Harry Campbell - University of Edinburgh
Brian Fleck - Royal Edinburgh Hospital
Igor Rudan - University of Edinburgh
Tin Aung - National University of Singapore
Albert Hofman - Erasmus University Rotterdam
André G. Uitterlinden - Erasmus University Rotterdam
Goran Bencic - University of Zagreb
Chiea-Chuen Khor - Agency for Science, Technology and Research
Hannah Forward - University of Western Australia
Olavi Pärssinen - University of Jyväskylä
Paul Mitchell - University of Sydney
Fernando Rivadeneira - Erasmus University Rotterdam
Alex W. Hewitt - University of Melbourne
Cathy Williams - University of Bristol
Ben A. Oostra - Erasmus University Rotterdam
Yik-Ying Teo - University of Wisconsin School of Medicine and Public Health
Christopher J. Hammond - University of Wisconsin School of Medicine and Public Health
Dwight Stambolian - University of Wisconsin School of Medicine and Public Health
David A. Mackey - University of Wisconsin School of Medicine and Public Health
Molecular Risk Factors Program Project
Caroline C.W. Klaver - University of Wisconsin School of Medicine and Public Health
Tien-Yin Wong - University of Wisconsin School of Medicine and Public Health
Eduardo C Alfonso - Leadership Department
Seang-Mei Saw - University of Wisconsin School of Medicine and Public Health
Paul N. Baird - University of Wisconsin School of Medicine and Public Health
Publication Details: American journal of human genetics, Vol.93(2), pp.264-277
Publisher: Elsevier
Academic Unit: Miller School of Medicine; Leadership Department; UMMG Department of Ophthalmology
Language: English
Resource Type: Journal article
PMID: 24144296
PMCID: PMC3772747
Record Identifier: 991031714064202976