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

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

doi:10.1155/2015/729463

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.

Highlights

Myopia is a common cause of visual impairment worldwide [1], with a prevalence of 33.1% in the USA [2], 16.4% in Australia, and 26.6% in the Western Europe [3]
All of the four single nucleotide polymorphisms (SNPs) were successfully genotyped, and the genotype distributions were within Hardy-Weinberg equilibrium in both patient and control groups (P > 0.05, Table 2)
Among the SNPs genotyped, rs9307551 was found to be significantly associated with high myopia

Summary

Introduction

Myopia is a common cause of visual impairment worldwide [1], with a prevalence of 33.1% in the USA [2], 16.4% in Australia, and 26.6% in the Western Europe [3]. The prevalence of myopia in Asian populations is up to 40–70% [4,5,6]. In mainland China, almost 43.9% of the population suffer from myopia [7]. High myopia (HM) is associated with pathologic ocular changes, such as myopic macular degeneration, glaucoma, and retinal detachment [8,9,10]. In China, the prevalence of HM is 4.1% [7] and is much higher in high school and university students [11]

Methods

Results

Conclusion