Purpose: The aim of this study is to investigate whether SOX2 gene variants were associated with high myopia in a Chinese population.
Methods: This study is conducted using case-control association analysis. This study recruited 83 healthy controls (with binocular spherical equivalent between -0.50 and +0.50 D) and 117 high myopia cases (spherical equivalent > -6.00 D in both eyes). Three single-nucleotide polymorphisms were selected from HapMap database for genotyping by direct sequencing. Statistical software (SPSS 22.0) was used for statistical analysis. The chi-square test was used to examine the difference in the frequency between cases and controls.
Results: Genotype distributions in the three single-nucleotide polymorphisms were all in accordance with the Hardy-Weinberg equilibrium. The differences of rs4575941 locus genotype frequency and allele frequency between the case group and the control group were statistically significant (p = .043 and p = .029, respectively). The rs4575941 allele G frequency in the high myopia group was significantly higher than that in the control group with an odds ratio value of 1.579. However, the value of a chi-square test for the trend was 0.029, and after Bonferroni test, the p value was .087.
Conclusion: In Chinese population, rs4575941 in SOX2 gene was likely to play some roles in the genetic susceptibility to high myopia; the rs4575941 allele G might be a risk gene for high myopia.
Keywords: Chinese population; High myopia; SOX2 gene; single-nucleotide polymorphism.