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; Panos Deloukas; 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

08/08/2013

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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Title: Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
Creators - without role: Ching-Yu Cheng - University of Wisconsin School of Medicine and Public Health
Maria Schache - University of Wisconsin School of Medicine and Public Health
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 Wisconsin School of Medicine and Public Health
Stuart MacGregor - University of Wisconsin School of Medicine and Public Health
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 - University of Wisconsin School of Medicine and Public Health
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 Wisconsin School of Medicine and Public Health
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 - University of Wisconsin School of Medicine and Public Health
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 Wisconsin School of Medicine and Public Health
Ozren Polasek - University of Wisconsin School of Medicine and Public Health
Alan F. Wright - University of Wisconsin School of Medicine and Public Health
Najaf Amin - University of Wisconsin School of Medicine and Public Health
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 - University of Wisconsin School of Medicine and Public Health
Peng Chen - University of Wisconsin School of Medicine and Public Health
Ruoying Li - University of Wisconsin School of Medicine and Public Health
Wan-Ting Tay - University of Wisconsin School of Medicine and Public Health
Yingfeng Zheng - University of Wisconsin School of Medicine and Public Health
Merwyn Chew - University of Wisconsin School of Medicine and Public Health
Kathryn P. Burdon - University of Wisconsin School of Medicine and Public Health
Jamie E. Craig - University of Wisconsin School of Medicine and Public Health
Sudha K. Iyengar - University of Wisconsin School of Medicine and Public Health
Robert P. Igo - University of Wisconsin School of Medicine and Public Health
Jonathan H. Lass - University of Wisconsin School of Medicine and Public Health
Emily Y. Chew - University of Wisconsin School of Medicine and Public Health
Toomas Haller - University of Wisconsin School of Medicine and Public Health
Evelin Mihailov - University of Wisconsin School of Medicine and Public Health
Andres Metspalu - University of Wisconsin School of Medicine and Public Health
Juho Wedenoja - University of Wisconsin School of Medicine and Public Health
Claire L. Simpson - University of Wisconsin School of Medicine and Public Health
Robert Wojciechowski - University of Wisconsin School of Medicine and Public Health
René Höhn - University of Wisconsin School of Medicine and Public Health
Alireza Mirshahi - University of Wisconsin School of Medicine and Public Health
Tanja Zeller - University of Wisconsin School of Medicine and Public Health
Norbert Pfeiffer - University of Wisconsin School of Medicine and Public Health
Karl J. Lackner - University of Wisconsin School of Medicine and Public Health
Thomas Bettecken - University of Wisconsin School of Medicine and Public Health
Thomas Meitinger - University of Wisconsin School of Medicine and Public Health
Konrad Oexle - University of Wisconsin School of Medicine and Public Health
Mario Pirastu - University of Wisconsin School of Medicine and Public Health
Laura Portas - University of Wisconsin School of Medicine and Public Health
Abhishek Nag - University of Wisconsin School of Medicine and Public Health
Katie M. Williams - University of Wisconsin School of Medicine and Public Health
Ekaterina Yonova-Doing - University of Wisconsin School of Medicine and Public Health
Ronald Klein - University of Wisconsin School of Medicine and Public Health
Barbara E. Klein - University of Wisconsin School of Medicine and Public Health
S. Mohsen Hosseini - University of Wisconsin School of Medicine and Public Health
Andrew D. Paterson - University of Wisconsin School of Medicine and Public Health
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 Wisconsin School of Medicine and Public Health
Nagahisa Yoshimura - University of Wisconsin School of Medicine and Public Health
Fumihiko Matsuda - University of Wisconsin School of Medicine and Public Health
Li Jia Chen - University of Wisconsin School of Medicine and Public Health
Chi Pui Pang - University of Wisconsin School of Medicine and Public Health
Shea Ping Yip - University of Wisconsin School of Medicine and Public Health
Maurice K.H. Yap - University of Wisconsin School of Medicine and Public Health
Akira Meguro - University of Wisconsin School of Medicine and Public Health
Nobuhisa Mizuki - University of Wisconsin School of Medicine and Public Health
Hidetoshi Inoko - University of Wisconsin School of Medicine and Public Health
Paul J. Foster - University of Wisconsin School of Medicine and Public Health
Jing Hua Zhao - University of Wisconsin School of Medicine and Public Health
Eranga Vithana - University of Wisconsin School of Medicine and Public Health
E-Shyong Tai - University of Wisconsin School of Medicine and Public Health
Qiao Fan - University of Wisconsin School of Medicine and Public Health
Liang Xu - University of Wisconsin School of Medicine and Public Health
Harry Campbell - University of Wisconsin School of Medicine and Public Health
Brian Fleck - University of Wisconsin School of Medicine and Public Health
Igor Rudan - University of Wisconsin School of Medicine and Public Health
Tin Aung - University of Wisconsin School of Medicine and Public Health
Albert Hofman - University of Wisconsin School of Medicine and Public Health
André G. Uitterlinden - University of Wisconsin School of Medicine and Public Health
Goran Bencic - University of Wisconsin School of Medicine and Public Health
Chiea-Chuen Khor - University of Wisconsin School of Medicine and Public Health
Hannah Forward - University of Wisconsin School of Medicine and Public Health
Olavi Pärssinen - University of Wisconsin School of Medicine and Public Health
Paul Mitchell - University of Wisconsin School of Medicine and Public Health
Fernando Rivadeneira - University of Wisconsin School of Medicine and Public Health
Alex W. Hewitt - University of Wisconsin School of Medicine and Public Health
Cathy Williams - University of Wisconsin School of Medicine and Public Health
Ben A. Oostra - University of Wisconsin School of Medicine and Public Health
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
Panos Deloukas - King Abdulaziz University
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
Identifiers: 9938314808331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article