Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population

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• 作者：Yi Shi¹ ; ¹³ ; Jia Qu² ; ¹³ ; Dingding Zhang¹ ; ¹³ ; Peiquan Zhao³ ; ¹³ ; Qingjiong Zhang⁴ ; ¹³ ; Pancy  ; Oi  ; Sin Tam⁵ ; Liangdan Sun⁶ ; Xianbo Zuo⁶ ; Xiangtian Zhou² ; Xueshan Xiao⁴ ; Jianbin Hu⁷ ; Yuanfeng Li¹ ; Li Cai¹ ; Xiaoqi Liu¹ ; Fang Lu¹ ; Shihuang Liao⁷ ; Bin Chen⁷ ; Fei He¹ ; Bo Gong¹ ; He Lin¹ ; Shi Ma¹ ; Jing Cheng¹ ; Jie Zhang⁸ ; Yiye Chen³ ; Fuxin Zhao² ; Xian Yang⁹ ; Yuhong Chen¹⁰ ; Charles Yang¹¹ ; Dennis  ; Shun  ; Chiu Lam⁵ ; Xi Li¹ ; Fanjun Shi² ; Zhengzheng Wu⁷ ; Ying Lin¹ ; Jiyun Yang¹ ; Shiqiang Li⁴ ; Yunqing Ren⁶ ; Anquan Xue² ; Yingchuan Fan⁷ ; Dean Li¹² ; Chi  ; Pui Pang⁵ ; Xuejun Zhang⁶ ; Zhenglin Yang¹ ; ^{zliny@yahoo.com"" rel=""nofollow}
• 刊名：The American Journal of Human Genetics
• 出版年：2011
• 出版时间：10 June 2011
• 年：2011
• 卷：88
• 期：6
• 页码：805-813
• 全文大小：557 K

文摘

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.