作者
Ching-Yu Cheng, Maria Schache, M Kamran Ikram, Terri L Young, Jeremy A Guggenheim, Veronique Vitart, Stuart MacGregor, Virginie JM 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 TVM De Jong, Johannes R Vingerling, Xin Zhou, Peng Chen, Ruoying Li, Wan-Ting Tay, Yingfeng Zheng, Merwyn Chew, Jugnoo S Rahi, Nagahisa Yoshimura, Kenji Yamashiro, Masahiro Miyake, Cécile Delcourt, Cecilia Maubaret, Cathy Williams, Kate Northstone, Susan M Ring, George Davey-Smith, Jamie E Craig, Kathryn P Burdon, Rhys D Fogarty, Sudha K Iyengar, Robert P Igo, Emily Chew, Sarayut Janmahasathian, Dwight Stambolian, Joan E Bailey Wilson, Yi Lu, Jost B Jonas, Liang Xu, Seang-Mei Saw, Paul N Baird, Paul Mitchell, Vinay Nangia, Caroline Hayward, Harry Campbell, Igor Rudan, Zoran Vatavuk, Andrew D Paterson, S Mohsen Hosseini, Jeremy R Fondran, Sheng Feng, Caroline C Klaver, Andres Metspalu, Toomas Haller, Evelin Mihailov, Olavi Pärssinen, Juho Wedenoja, Robert Wojciechowski, Norbert Pfeiffer, René Höhn, Chi Pui Pang, Thomas Meitinger, Konrad Oexle, Aharon Wegner, Shea Ping Yip, Daniel WH Ho, Mario Pirastu, Federico Murgia, Laura Portas, Genevra Biino, Brian Fleck, Alex W Hewitt, Wei Ang, Tien-Yin Wong, Yik-Ying Teo, Qiao Fan, E-Shyong Tai, David A Mackey, Christopher J Hammond, Margaret M Deangelis, Margaux Morrison, Xiangtian Zhou, Wei Chen, Nobuhisa Mizuki, Akira Meguro, Terho Lehtimäki, Kari-Matti Mäkelä, Olli Raitakari, Mika Kähönen, Jonathan H Lass, William Reinhart, Michael W Belin, Robert L Schultze, Todd Morason, Alan Sugar, Shahzad Mian, Hunson Kaz Soong, Kathryn Colby, Ula Jurkunas, Richard Yee, Mark Vital, Eduardo Alfonso, Carol Karp, Yunhee Lee, Sonia Yoo, Kristin Hammersmith, Elisabeth Cohen, Peter Laibson, Christopher Rapuano, Brandon Ayres, Christopher Croasdale, James Caudill, Sanjay Patel, Keith Baratz, William Bourne, Leo Maguire, Joel Sugar, Elmer Tu, Ali Djalilian, Vinod Mootha, James McCulley, Wayne Bowman, H Dwight Cavanaugh, Steven Verity, David Verdier, Ann Renucci, Matt Oliva, Walter Rotkis, David R Hardten, Ahmad Fahmy
发表日期
2013/8/8
期刊
The American Journal of Human Genetics
卷号
93
期号
2
页码范围
264-277
出版商
Elsevier
简介
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 …
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