Extreme myopia is more susceptible to SOX2 gene than high myopia

Exp Eye Res. 2023 May:230:109435. doi: 10.1016/j.exer.2023.109435. Epub 2023 Mar 14.


Purpose: To explore the association between two single-nucleotide polymorphisms (SNPs) in the SOX2 gene and high and extreme myopia in the Han Chinese population.

Materials and methods: A genetic association study using a case-control method was performed with 139 high myopia, 318 extreme myopia, and 918 healthy participants from the Chinese Han population. Two SNPs (rs4459940 and rs4575941) near SOX2 gene were selected for genotyping. We compared the allelic frequencies and haplotypes of the SNPs to assess their association with high and extreme myopia. This study was adjusted for sex and age of participants in the groups.

Result: The mean ages of the extreme myopia and control subjects were 47.44 ± 15.59 and 44.15 ± 14.08 years, respectively. The rs4575941 SNP of the SOX2 gene and the GG and AG genotypes showed no significant association with the risk of high myopia as opposed to the AA genotype (GG, OR = 0.94, 95% CI = 0.55-1.60, P = 0.820, Pc = NS; AG, OR = 0.91, 95% CI = 0.54-1.52, P = 0.708, Pc = NS). However, the frequency of the risk G allele of rs4575941 was significantly higher in the extreme myopia group than in the control group (OR = 1.31, 95% CI = 1.08-1.59; P = 0.007; Pc = 0.014). Furthermore, there were significant differences in the GG genotype frequency between the extreme myopia and control groups (OR = 1.77, 95% CI = 1.45-2.74, P = 0.009, Pc = 0.036). The A-G haplotype frequency was higher in the extreme group (OR = 1.27, 95% CI = 1.05-1.55, P = 0.014), while there were no significant differences found in high myopia group (OR = 1.18, 95% CI = 0.77-1.31, P = 0.979).

Conclusion: The SOX2 rs4575941 polymorphism, in Chinese Han population, contributes to the susceptibility of extreme myopia. SOX2 may thus be implicated in extreme myopia rather than in high myopia.

Keywords: Extreme myopia; Han Chinese population; High myopia; SOX2; Single nucleotide polymorphisms.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • China / epidemiology
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • Haplotypes
  • Humans
  • Middle Aged
  • Myopia* / genetics
  • Polymorphism, Single Nucleotide
  • SOXB1 Transcription Factors / genetics


  • SOX2 protein, human
  • SOXB1 Transcription Factors