Evaluation Of Genome Wide Susceptibility Loci For High Myopia In A Han Chinese Population

Myopia is now the most common eye disorder in the world,which can lead to decreased visual acuity and poor visual quality.Even though myopia can be corrected by optical methods(contact lenses,glasses and refractive surgery),with the progressive increasing of degree and extension of axis,visual function can be seriously damaged.High myopia can cause a mass of ocular complications,including retinal detachment,choroidal neovascularization,macular degeneration,cataract and glaucoma.Neverthless,high myopia has merged as one of the leading causes of legal blindness.Genetic factors play an important role in the development of HM.In this study,we aim to investigate the association of seven single nucleotide polymorphisms(SNPs)(rs1656404,rs7829127,rs7084402,rs17648524,rs1254319,rs12205363 and rs3138144),which reported by a previous genome-wide association study(GWAS)with high myopia(HM)in a Han Chinese population.These seven SNPs were genotyped by SNaPshot method(Applied Biosystems,ABI,Foster City,CA)in a Han Chinese cohort composed of 830 HM patients and 1140 normal controls.Among these SNPs,rs17648524 and rs7084402 were significantly associated with HM(p=3.0�10-3,OR=0.43;p=3.7�10-2,OR=1.25,respectively).The association between rs17648524 and HM was also observed under heterozygous model(CG VS.GG,p=3.0�10-3,OR=0.43)and the dominant model(CC+CG VS.GG,p=4.0�10-3,OR=0.42).The association between rs7084402 and HM was found under homozygous model(GG VS.AA,p=4.0�10-2,OR=1.56)and the dominant model(GG+AG VS.AA,p=3.8�10-3,OR=1.41).Another SNP,rs7829127(A/G),was found to be significantly associated with HM under heterozygous model(AG VS.AA,p=4.6�10-2,OR=0.67).Furthermore,the associations of rs17648524 and rs7084402 with HM were gender-specific,with significance observed only in female but not in male.As for the other four SNPs,no association was detected under these genetic models.Our findings suggests rs17648524(intronic RBFOX1 gene)and rs7084402(7.5kb 5' of the BICC1 gene)showed gender-specific associations with high myopia in the Han Chinese.