Associations Of Single Nucleotide Polymorphisms In Chromosomes15q14、15q25and13q12.12Regions With High Myopia

Objective: This study was to investigate whether there are associations of geneticvariations in chromosome15q14,15q25,13q12.12regions with high myopia.Methods: A case-controlled association study. All study subjects were recruited fromNingxia Eye Hospital and ophthalmology department of Ningxia Medical University GeneralHospital between January2011to January2013. Four hundred and eighty-seven high myopiapatients as well as four hundred and eighty-eighty normal subjects were included in thisprospective cohort study. All of them underwent thorough eye examination. Periphery blood3-5ml was collected from all subjects. Nine single nucleotide polymorphisms (SNPs)including rs634990, rs524952, rs8027411, rs9318086, rs9510902, rs3794338, rs1886970,rs7325450and rs7331047across candidate chromosomes on15q14,15q25,13q12.12regionswere genotyped with MassArray and MALDI-TOF technique by Sequenom platform. Thegenotype and allele frequencies of the SNPs between the high myopia patients and normalcontrols were evaluated and compared by chi-squared analysis and regression analysis,bonferroni corrections for multiple comparisons were performed. Genotypic distribution wastested for Hardy-Weinberg equilibrium.Results: There were significant differences in genotype frequency and allele frequencyof SNP rs8027411in chromosome15q25between individuals with high myopia and normalsubjects in population (P=0.002, P=0.004), and the OR values of GT and TT genotype were1.575(1.108-2.238) and1.661(1.231-2.214), OR value of T allele was1.298(1.086-1.552),they still showed positive association after Bonferroni correction.Conclusion: The SNP rs8027411was associated with high myopia population. The risk for high myopia increased in individuals with genotype of GT and TT in SNPrs8027411.