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Related Experiment Video

Updated: May 19, 2026

Comparison of Agreement and Accuracy using Binocular Wavefront Optometer with Autorefractor and Phoropter
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Genetic Association Study Between Refractive Error-Related Genes and High Myopia in the Chinese Han Population.

Jianxin Liu1,2, Weijiang Liao3, Chunbao Xie1

  • 1Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 610072, Sichuan, China, scu.edu.cn.

Journal of Ophthalmology
|May 18, 2026
PubMed
Summary

The rs580839 single nucleotide polymorphism (SNP) in the GJD2 gene is associated with high myopia (HM) in the Han Chinese population. This genetic factor may influence HM development through the C x 36 protein pathway.

Keywords:
C × 36GJD2 genehigh myopiars580839

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Refractive errors, particularly high myopia (HM), are a leading cause of global visual impairment and blindness.
  • While 12 single nucleotide polymorphisms (SNPs) have been linked to refractive errors in other populations, their role in Chinese cohorts, especially concerning HM, is largely unexplored.

Purpose of the Study:

  • To investigate the genetic association of specific SNPs, including rs580839, with high myopia (HM) in a Han Chinese population.
  • To explore the potential mechanism of rs580839 in HM pathogenesis using genetic databases and a mouse model.

Main Methods:

  • Genotyping of specific SNPs was performed using multiplexed SNP/exome capture sequencing in a cohort of HM patients and emmetropic individuals.
  • The 3DSNP and GTEx databases were utilized to identify associations between SNPs and gene regulation.
  • A mouse form-deprivation myopia (FDM) model was employed, with retinal protein levels analyzed via western blot.

Main Results:

  • A statistically significant association was found between the heterozygous genotype of GJD2-rs580839 (G/A) and HM in the Han Chinese cohort under both heterozygous and dominant inheritance models.
  • The GTEx database indicated that risk genotypes of rs580839 are linked to the regulation of GJD2 gene expression.
  • The FDM mouse model demonstrated a significant downregulation of C x 36 protein expression.

Conclusions:

  • The study suggests a statistically significant association between the GJD2-rs580839 SNP and high myopia in the Han Chinese population.
  • Rs580839 may contribute to HM pathogenesis via a pathway involving C x 36.
  • Further in vivo research is necessary to fully understand the complex mechanisms underlying high myopia development.