A Study On The Association Of Four Single Nucleotide Polymorphisms (SNP) In Chromosome 4 With High Myopia

Objective To investigate the relationship between the single nucleotide polymorphisms in chromosome 4 (rs941265,rs4697489,rs1035712 and rs7668118) and high myopia in Chinese Han population.Method Genome-wide association analysis method is used to selectthe single nucleotide polymorphisms in chromosome 4.Using the Micro-sequencing(Primer extension, SnaPshot) to genotype four SNP (rs941265,rs4697489,rs1035712 and rs7668118) of Chinese Han population 506 high myopia cases and 991 controls.Result Genotypes of SNP (rs941265, rs4697489, rs1035712,rs7668118)in chromosome 4 accord with Hardy-Weinberg balance(P>0.05),This research material has the group representative.Genotype frequency and allele frequency in high myopia and control have no statistically significant differences in rs1035712,rs7668118(P>0.05),but have statistically significant differences in rs941265,rs4697489(P=0.00033,P=0.0048). rs941265 and rs4697489 both locate in CCDC149 gene block.High myopia patients haploid type (HI; TC) was significantly higher than that of control.Conclusion CCDC149 gene have significant association high myopia in Chinese Han ethnicity.