Медицинская библиотека · Nature communications · 2014
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
Springelkamp Henriët, Höhn René, Mishra Aniket, Hysi Pirro G, Khor Chiea-Chuen, Loomis Stephanie J, Bailey Jessica N Cooke, Gibson Jane, Thorleifsson Gudmar, Janssen Sarah F, Luo Xiaoyan, Ramdas Wishal D, Vithana Eranga, Nongpiur Monisha E, Montgomery Grant W, Xu Liang, Mountain Jenny E, Gharahkhani Puya, Lu Yi, Amin Najaf, Karssen Lennart C, Sim Kar-Seng, van Leeuwen Elisabeth M, Iglesias Adriana I, Verhoeven Virginie J M, Hauser Michael A, Loon Seng-Chee, Despriet Dominiek D G, Nag Abhishek, Venturini Cristina, Sanfilippo Paul G, Schillert Arne, Kang Jae H, Landers John, Jonasson Fridbert, Cree Angela J, van Koolwijk Leonieke M E, Rivadeneira Fernando, Souzeau Emmanuelle, Jonsson Vesteinn, Menon Geeta, Blue Mountains Eye Study—GWAS group, Weinreb Robert N, de Jong Paulus T V M, Oostra Ben A, Uitterlinden André G, Hofman Albert, Ennis Sarah, Thorsteinsdottir Unnur, Burdon Kathryn P, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Spector Timothy D, Mirshahi Alireza, Saw Seang-Mei, Vingerling Johannes R, Teo Yik-Ying, Haines Jonathan L, Wolfs Roger C W, Lemij Hans G, Tai E-Shyong, Jansonius Nomdo M, Jonas Jost B, Cheng Ching-Yu, Aung Tin, Viswanathan Ananth C, Klaver Caroline C W, Craig Jamie E, Macgregor Stuart, Mackey David A, Lotery Andrew J, Stefansson Kari, Bergen Arthur A B, Young Terri L, Wiggs Janey L, Pfeiffer Norbert, Wong Tien-Yin, Pasquale Louis R, Hewitt Alex W, van Duijn Cornelia M, Hammond Christopher J
СтатьяМетаанализResearch Support, American Recovery and Reinvestment ActПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод пока не подготовлен
Аннотация
Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.
Для цитирования: Springelkamp Henriët, Höhn René, Mishra Aniket, Hysi Pirro G, Khor Chiea-Chuen, Loomis Stephanie J, Bailey Jessica N Cooke, Gibson Jane, Thorleifsson Gudmar, Janssen Sarah F, Luo Xiaoyan, Ramdas Wishal D, Vithana Eranga, Nongpiur Monisha E, Montgomery Grant W, Xu Liang, Mountain Jenny E, Gharahkhani Puya, Lu Yi, Amin Najaf, Karssen Lennart C, Sim Kar-Seng, van Leeuwen Elisabeth M, Iglesias Adriana I, Verhoeven Virginie J M, Hauser Michael A, Loon Seng-Chee, Despriet Dominiek D G, Nag Abhishek, Venturini Cristina, Sanfilippo Paul G, Schillert Arne, Kang Jae H, Landers John, Jonasson Fridbert, Cree Angela J, van Koolwijk Leonieke M E, Rivadeneira Fernando, Souzeau Emmanuelle, Jonsson Vesteinn, Menon Geeta, Blue Mountains Eye Study—GWAS group, Weinreb Robert N, de Jong Paulus T V M, Oostra Ben A, Uitterlinden André G, Hofman Albert, Ennis Sarah, Thorsteinsdottir Unnur, Burdon Kathryn P, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Spector Timothy D, Mirshahi Alireza, Saw Seang-Mei, Vingerling Johannes R, Teo Yik-Ying, Haines Jonathan L, Wolfs Roger C W, Lemij Hans G, Tai E-Shyong, Jansonius Nomdo M, Jonas Jost B, Cheng Ching-Yu, Aung Tin, Viswanathan Ananth C, Klaver Caroline C W, Craig Jamie E, Macgregor Stuart, Mackey David A, Lotery Andrew J, Stefansson Kari, Bergen Arthur A B, Young Terri L, Wiggs Janey L, Pfeiffer Norbert, Wong Tien-Yin, Pasquale Louis R, Hewitt Alex W, van Duijn Cornelia M, Hammond Christopher J. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.. Nature communications. 2014. DOI: 10.1038/ncomms5883.
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