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  3. Association Between Polymorphisms Of 4 Common Genes And High Myopia Risk: A Comprehensive Analysis.
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  3. Association Between Polymorphisms Of 4 Common Genes And High Myopia Risk: A Comprehensive Analysis.

Related Experiment Video

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
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Association Between Polymorphisms of 4 Common Genes and High Myopia Risk: A Comprehensive Analysis.

Qianqian Yu1, Chao Sun1, Tianhua Xie1

  • 1Department of Ophthalmology, Wuxi People's Hospital Affiliated to Nanjing Medical University, Wuxi, Jiangsu, China.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
|June 26, 2026

View abstract on PubMed

Summary
This summary is machine-generated.

This study found specific gene variations, including GJD2 rs3743123 and four ZC3H11B SNPs, are linked to a reduced risk of high myopia (HM). Further research is needed to confirm these findings for early HM identification.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Genome-wide association studies (GWAS) suggest single-nucleotide polymorphisms (SNPs) influence high myopia (HM) susceptibility.
  • Investigating the association between common SNPs in four genes (GJD2, ZC3H11B, MMP1, MMP9) and HM risk is crucial.

Purpose of the Study:

  • To conduct a meta-analysis of existing studies on the association between specific SNPs in GJD2, ZC3H11B, MMP1, and MMP9 genes and the risk of high myopia.
  • To identify genetic markers that may contribute to the development or protection against high myopia.

Main Methods:

  • A systematic literature search was performed on PubMed and Wanfang databases until December 10, 2025.
  • Keywords included gene names (GJD2, ZC3H11B, MMP1, MMP9), 'polymorphism', and 'myopia' or 'shortsightedness'.
  • Meta-analysis of data from 15 articles was conducted using Stata software to calculate odds ratios and 95% confidence intervals.

    • Main Results:

    • The meta-analysis included 2 SNPs in GJD2, 4 SNPs in ZC3H11B, 1 SNP in MMP1, and 1 SNP in MMP9.
    • The GJD2 gene SNP rs3743123 was significantly associated with a decreased overall risk of high myopia.
    • All four analyzed SNPs in the ZC3H11B gene (rs4373767, rs4428898, rs10779363, rs7544369) showed a similar trend associated with reduced HM risk.

    Conclusions:

    • Polymorphisms in the GJD2 gene (rs3743123) and ZC3H11B gene (rs4373767, rs4428898, rs10779363, rs7544369) are associated with the risk of high myopia.
    • These findings require confirmation through larger studies and mechanistic research.
    • Identifying these genetic associations may aid in the early detection and prognostic assessment of high myopia.