: Genetic association between the gene single nucleotide polymorphism (SNP) and high myopia remains inconsistent in different studies. This study aimed to investigate the association between and high myopia in a Han Chinese population.: A total of 675 patients with high myopia (HM), including 246 extreme myopia (EM) patients, and 800 healthy subjects with normal vision from the Chinese Han population were selected as the study subjects. The SNP of was genotyped by TaqMan allele discrimination assay on the 7300 real-time polymorphism chain reaction system, and the relationship between genotype and allele frequency of and high myopia was analyzed.: In our study, there are statistically significant differences between high myopia patients and controls in the allele frequencies (OR = 1.268, 95%CI = 1.030 ~ 1.560, = .025), but not in genotype distributions (χ2 = 5.673, = .059) of SNP in the gene. In addition, a weak association was found in recessive model (GG vs. AG+AA: OR = 1.929, 95%CI = 1.004 ~ 3.708, = .045), but not in dominant model (AG+GG vs. AA: OR = 1.239, 95%CI = 0.981 ~ 1.566, = .072). Moreover, significant associations were also found between polymorphism and the risk of extreme myopia in all genetic models.: Our results do support that the genetic variant of is associated with susceptibility of high myopia, especially extreme myopia in a Chinese Han population, and further exploration is needed for myopia in other populations.
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