Title |
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
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Published in |
Nature Genetics, February 2013
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DOI | 10.1038/ng.2554 |
Pubmed ID | |
Authors |
Virginie J M Verhoeven, Pirro G Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A Guggenheim, René Höhn, Stuart MacGregor, Alex W Hewitt, Abhishek Nag, Ching-Yu Cheng, Ekaterina Yonova-Doing, Xin Zhou, M Kamran Ikram, Gabriëlle H S Buitendijk, George McMahon, John P Kemp, Beate St Pourcain, Claire L Simpson, Kari-Matti Mäkelä, Terho Lehtimäki, Mika Kähönen, Andrew D Paterson, S Mohsen Hosseini, Hoi Suen Wong, Liang Xu, Jost B Jonas, Olavi Pärssinen, 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 Döring, 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 Janmahasatian, Robert P Igo Jr, 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 Müller, André 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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 3 | 27% |
Estonia | 1 | 9% |
Spain | 1 | 9% |
United States | 1 | 9% |
Unknown | 5 | 45% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 6 | 55% |
Scientists | 3 | 27% |
Science communicators (journalists, bloggers, editors) | 2 | 18% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
China | 2 | <1% |
Australia | 2 | <1% |
Austria | 1 | <1% |
Brazil | 1 | <1% |
Switzerland | 1 | <1% |
India | 1 | <1% |
Israel | 1 | <1% |
United Kingdom | 1 | <1% |
United States | 1 | <1% |
Other | 0 | 0% |
Unknown | 303 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 62 | 20% |
Student > Ph. D. Student | 50 | 16% |
Student > Master | 21 | 7% |
Other | 19 | 6% |
Professor | 19 | 6% |
Other | 72 | 23% |
Unknown | 71 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 94 | 30% |
Agricultural and Biological Sciences | 55 | 18% |
Biochemistry, Genetics and Molecular Biology | 33 | 11% |
Engineering | 8 | 3% |
Nursing and Health Professions | 7 | 2% |
Other | 34 | 11% |
Unknown | 83 | 26% |