Evaluation of four genetic variants in han chinese subjects with high myopia

Zimeng Ye; Huaichao Luo; Bo Gong; Ying Lin; Ping Shuai; Pu Wang; Changning Ye; Zhenglin Yang; Wanjun Wang; Yi Shi

doi:10.1155/2015/729463

Evaluation of four genetic variants in han chinese subjects with high myopia

J Ophthalmol. 2015:2015:729463. doi: 10.1155/2015/729463. Epub 2015 Jan 5.

Authors

Zimeng Ye¹, Huaichao Luo², Bo Gong³, Ying Lin³, Ping Shuai², Pu Wang², Changning Ye⁴, Zhenglin Yang⁵, Wanjun Wang⁶, Yi Shi⁵

Affiliations

¹ College of Life Science and Engineering, Southwest Jiaotong University, 111, First Section, Northern Second Ring Road, Chengdu, Sichuan 610031, China ; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China.
² Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China.
³ Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China ; Department of Laboratory Medicine, Sichuan Provincial People's Hospital, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China.
⁴ Department of Laboratory Medicine, Sichuan Provincial People's Hospital, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China.
⁵ Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of the University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China ; Department of Laboratory Medicine, Sichuan Provincial People's Hospital, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China ; School of Medicine, University of Electronic Science and Technology of China, 32 the First Ring Road West 2, Chengdu, Sichuan 610072, China.
⁶ College of Life Science and Engineering, Southwest Jiaotong University, 111, First Section, Northern Second Ring Road, Chengdu, Sichuan 610031, China.

Abstract

High myopia is one of the leading causes of blindness worldwide. However, the exact etiology of high myopia remains unraveled despite numerous attempts of elucidation. Previous genome-wide association study (GWAS) has revealed that four single nucleotide polymorphisms (SNPs), including rs2969180, rs1652333, rs9307551, and rs7837791, were associated with high myopia in Caucasians. The present study was conducted to investigate whether these genetic variants were associated with high myopia in Han Chinese. These four SNPs were genotyped by SNaPshot method in a Han Chinese cohort composed of 827 patients with high myopia and 988 healthy controls. Among the SNPs genotyped, only rs9307551 was found to be significantly associated with high myopia in this study. Carriers of rs9307551A allele, AA, and AC genotypes had an increased risk of high myopia (OR = 1.33, 95% CI 1.14-1.54; OR = 1.75, 95% CI 1.28-2.38; OR = 1.59, 95% CI 1.24-2.01, resp.). Interestingly, when split by gender, the association between rs9307551 and high myopia proved to be gender-specific with significance observed only in females but not males. These findings suggested that the SNP of rs9307551 showed a gender-specific association with high myopia in the Han Chinese population. In addition, LOC100506035, a lincRNA gene, might play a crucial role in the susceptibility to high myopia.