Article
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Nature communications - 14 May 2018
Iglesias Adriana I, Mishra Aniket, Vitart Veronique, Bykhovskaya Yelena, Höhn René, Springelkamp Henriët, Cuellar-Partida Gabriel, Gharahkhani Puya, Bailey Jessica N Cooke, Willoughby Colin E, Li Xiaohui, Yazar Seyhan, Nag Abhishek, Khawaja Anthony P, Polašek Ozren, Siscovick David, Mitchell Paul, Tham Yih Chung, Haines Jonathan L, Kearns Lisa S, Hayward Caroline, Shi Yuan, van Leeuwen Elisabeth M, Taylor Kent D, Bonnemaijer Pieter, Rotter Jerome I, Martin Nicholas G, Zeller Tanja, Mills Richard A, Souzeau Emmanuelle, Staffieri Sandra E, Jonas Jost B, Schmidtmann Irene, Boutin Thibaud, Kang Jae H, Lucas Sionne E M, Wong Tien Yin, Beutel Manfred E, Wilson James F, Uitterlinden André G, Vithana Eranga N, Foster Paul J, Hysi Pirro G, Hewitt Alex W, Khor Chiea Chuen, Pasquale Louis R, Montgomery Grant W, Klaver Caroline C W, Aung Tin, Pfeiffer Norbert, Mackey David A, Hammond Christopher J, Cheng Ching-Yu, Craig Jamie E, Rabinowitz Yaron S, Wiggs Janey L, Burdon Kathryn P, van Duijn Cornelia M, MacGregor Stuart
Abstract excerpt
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian...
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