Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population |
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| Authors: | Shi Yi Qu Jia Zhang Dingding Zhao Peiquan Zhang Qingjiong Tam Pancy Oi Sin Sun Liangdan Zuo Xianbo Zhou Xiangtian Xiao Xueshan Hu Jianbin Li Yuanfeng Cai Li Liu Xiaoqi Lu Fang Liao Shihuang Chen Bin He Fei Gong Bo Lin He Ma Shi Cheng Jing Zhang Jie Chen Yiye Zhao Fuxin Yang Xian Chen Yuhong Yang Charles Lam Dennis Shun Chiu Li Xi Shi Fanjun Wu Zhengzheng Lin Ying Yang Jiyun Li Shiqiang Ren Yunqing Xue Anquan Fan Yingchuan Li Dean Pang Chi Pui Zhang Xuejun Yang Zhenglin |
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| Institution: | 1The Sichuan Provincial Key Laboratory for Human Disease Gene Study and The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, China;2School of Optometry and Ophthalmology and Eye Hospital, Wenzhou Medical College, Wenzhou, Zhejiang 325035, China;3Department of Ophthalmology, Xinhua Hospital, Shanghai Jiaotong University, Shanghai 200092, China;4Zhongshan Ophthalmic Center, Guangzhou, Guangdong 510060, China;5Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong, China;6China Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui 230032, China;7Department of Ophthalmology, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, Sichuan 610072, China;8Shiji Eye Hospital, Chengdu, Sichuan 610016, China;9The Department of Ophthalmology, Medical College of Qingdao University, The Affiliated Hospital of Medical College Qingdao University, Qingdao 266003, China;10Department of Ophthalmology and Visual Science, Eye and ENT Hospital, Shanghai Medical School, Fudan University, Shanghai 200031, China;11West High School, Salt Lake City, Utah 84103, USA;12Molecular Medicine, University of Utah, Salt Lake City, Utah 84132, USA |
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| Abstract: | High myopia, which is extremely prevalent in the Chinese population, is one of the leading causes of blindness in the world. Genetic factors play a critical role in the development of the condition. To identify the genetic variants associated with high myopia in the Han Chinese, we conducted a genome-wide association study (GWAS) of 493,947 SNPs in 1088 individuals (419 cases and 669 controls) from a Han Chinese cohort and followed up on signals that were associated with p < 1.0 × 10−4 in three independent cohorts (combined, 2803 cases and 5642 controls). We identified a significant association between high myopia and a variant at 13q12.12 (rs9318086, combined p = 1.91 × 10−16, heterozygous odds ratio = 1.32, and homozygous odds ratio = 1.64). Furthermore, five additional SNPs (rs9510902, rs3794338, rs1886970, rs7325450, and rs7331047) in the same linkage disequilibrium (LD) block with rs9318086 also proved to be significantly associated with high myopia in the Han Chinese population; p values ranged from 5.46 × 10−11 to 6.16 × 10−16. This associated locus contains three genes—MIPEP, C1QTNF9B-AS1, and C1QTNF9B. MIPEP and C1QTNF9B were found to be expressed in the retina and retinal pigment epithelium (RPE) and are more likely than C1QTNF9B-AS1 to be associated with high myopia given the evidence of retinal signaling that controls eye growth. Our results suggest that the variants at 13q12.12 are associated with high myopia. |
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