机构：[1]The Sichuan Provincial Key Laboratory for Human Disease Gene Study and The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciencesand Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China四川省人民医院[2]School of Optometry and Ophthalmology and Eye Hospital, WenzhouMedical College, Wenzhou, Zhejiang 325035, China[3]Department of Ophthalmology, Xinhua Hospital, Shanghai Jiaotong University, Shanghai200092, China[4]Zhongshan Ophthalmic Center, Guangzhou, Guangdong 510060, China[5]Department of Ophthalmology and Visual Sciences, TheChinese University of Hong Kong, Kowloon, Hong Kong, China[6]China Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education,China, Hefei, Anhui 230032, China[7]Department of Ophthalmology, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital,Chengdu, Sichuan 610072, China四川省人民医院[8]Shiji Eye Hospital, Chengdu, Sichuan 610016, China[9]The Department of Ophthalmology, Medical College ofQingdao University, The Affiliated Hospital of Medical College Qingdao University, Qingdao 266003, China[10]Department of Ophthalmology and VisualScience, Eye and ENT Hospital, Shanghai Medical School, Fudan University, Shanghai 200031, China[11]West High School, Salt Lake City, Utah 84103, USA[12]Molecular Medicine, University of Utah, Salt Lake City, Utah 84132, USA
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 x 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 x 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 x 10(-11) to 6.16 x 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.
基金：
Natural Science
Foundation of China (grants 30900809 [Y.S.], 81025006 [Z.Y.],
81070761 [F.L.], 30871350 [D.Z.], and 81070751 [J.Q.]), the
National Basic Research Program of China (973 project,
2011CB504604 [Z.Y.]), the Department of Science and Technology
of Sichuan Province, China (Z.Y.), and the Zhejiang Provincial
Natural Science Foundation (grants R205739 and Z2100065 to
X.Z.)
第一作者机构：[1]The Sichuan Provincial Key Laboratory for Human Disease Gene Study and The Institute of Laboratory Medicine, Sichuan Academy of Medical Sciencesand Sichuan Provincial People’s Hospital, Chengdu, Sichuan 610072, China
共同第一作者：
通讯作者：
推荐引用方式(GB/T 7714)：
Yi Shi,Jia Qu,Dingding Zhang,et al.Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population[J].AMERICAN JOURNAL OF HUMAN GENETICS.2011,88(6):805-813.doi:10.1016/j.ajhg.2011.04.022.
APA：
Yi Shi,Jia Qu,Dingding Zhang,Peiquan Zhao,Qingjiong Zhang...&Zhenglin Yang.(2011).Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population.AMERICAN JOURNAL OF HUMAN GENETICS,88,(6)
MLA：
Yi Shi,et al."Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population".AMERICAN JOURNAL OF HUMAN GENETICS 88..6(2011):805-813
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