A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population

单核苷酸多态性 生物 连锁不平衡 遗传学 全基因组关联研究 基因座(遗传学) 遗传关联 SNP基因分型 SNP公司 基因分型 人口 优势比 基因型 基因 医学 内科学 环境卫生
作者
Yulong Shi,Bin Gong,Lin Chen,X. Zuo,Xueying Liu,Peter Tam,Xiangtian Zhou,Peiquan Zhao,Fengmin Lu,Jia Qu,Lingyue Sun,Fuxin Zhao,Haoyu Chen,Ying Zhang,Di Zhang,Yan Lin,Hongli Lin,Edmond S.K.,Jianquan Cheng,Jiyun Yang,Lulin Huang,Ming Zhang,Xiaolong Zhang,Chi‐Pui Pang,Zhihui Yang
出处
期刊:Human Molecular Genetics [Oxford University Press]
卷期号:22 (11): 2325-2333 被引量:74
标识
DOI:10.1093/hmg/ddt066
摘要

High myopia, highly prevalent in the Chinese population, is a leading cause of visual impairment worldwide. Genetic factors play a critical role in the development of this visual disorder. Genome-wide association studies in recent years have revealed several chromosomal regions that contribute to its progression. To identify additional genetic variants for high myopia susceptibility, we used a genome-wide meta-analysis to examine the associations between the disease and 286 031 single-nucleotide polymorphisms (SNPs) in a combined cohort of 665 cases and 960 controls. The most significant SNPs (n = 61) were genotyped in a replication cohort (850 cases and 1197 controls), and 14 SNPs were further tested through genotyping in two additional validation cohorts (combined 1278 cases and 2486 controls). As a result of this analysis, four SNPs reached genome-wide significance (P < 2.0 × 10–7). The most significantly associated SNP, rs2730260 [overall P = 8.95 × 10–14; odds ratio (95% CI) =1.33 (1.23–1.44)], is located in the VIPR2 gene, which is located in the MYP4 locus. The other three SNPs (rs7839488, rs4395927 and rs4455882) in the same linkage disequilibrium block are located in the SNTB1 gene, with ­P values ranging from 1.13 × 10–8 to 2.13 × 10–11. The VIPR2 and SNTB1 genes are expressed in the retina and the retinal pigment epithelium and have been previously reported to have potential functions for the pathogenesis of myopia. Our results suggest that variants of the VIPR2 and SNTB1 genes increase susceptibility to high myopia in Han Chinese.
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