A Study On The Association Of Single Nucleotide Polymorphisms (SNPs) In Chromosome 5 And 6 With High Myopia

Objective:To study the association between the single nucleotide polymorphisms in chromosome 5 and chromosome 6 (rs575425, rs492842, rs7706272, rs6895664, rs10484791 and rs2073135) and high myopia in Chinese Han population.Methods: Six positive SNPs (rs575425, rs492842, rs7706272, rs6895664, rs10484791 and rs2073135) in chromosome 5 and 6 were selected by genome-wide scaning. Peripheral blood samples from 506 patients with high myopia and 991 healthy controls were collected respectively and genome DNA of them were extracted. All paticipants were Chinese Han population. Two specific primers and specific primers of SNaPshot were designed to corresponding gene region involved in the six positive SNPs. Polymerase chain reaction was used to amplify genome DNA, diferent fluorescent dye labeled ddNTP was used to further extend the strand of PCR product, then the genotypes were detected by ABI 3130XL-Avant Genetic Analyzer. This is SNaPshot technique. Statistical analysis, including Hardy—Weinberg equilibrium test, Chi-square test, linkage disequilibrium analysis and haplotype analysis were performed to determine the association between the SNPs and the susceptibility of high myopia.Results:All the genotype frequencies of the six SNPs were in Hardy-Weinberg equilibrium (P>0.05). The allele and genotype frequencies of rs 10484791 and rs2073135 polymorphism in high myopia patients were significantly different from those of the healthy controls(P<0.05). There were not significant differences in allele and genotype frequencies of rs575425, rs492842, rs7706272 and rs6895664 between high myopia patients and healthy controls (P> 0.05). Moreover, rs10484791 and rs2073135 both locate in BAI3 (brain-specific angiogenesis inhibitor-3) gene block, except for in linkage disequilibrium block. Haplotypes H1(CG) and H2(TA) in the high myopia patients were significantly different from those of healthy controls(P<0.05).Conclusion:BA13 gene polymorphisms (rs10484791 and rs2073135) are highly associated with high myopia in Chinese Han population.