Genetic associations of high myopia

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• High myopia (HM) is a complex ocular condition with a significant genetic component.
• The precise genetic factors contributing to HM susceptibility remain incompletely understood.
• Identifying genetic variants associated with HM is crucial for understanding its pathogenesis and developing targeted interventions.

Purpose of the Study:

• To systematically evaluate the association between genetic polymorphisms and high myopia (HM) susceptibility.
• To identify specific single nucleotide polymorphisms (SNPs) and genes implicated in HM.
• To provide a comprehensive overview of current evidence on the genetic basis of HM.

Main Methods:

• A systematic literature search was conducted across five major databases up to January 2025.
• Included were case-control studies investigating the association of SNPs with HM.
• Meta-analysis using fixed or random effects models was performed to assess pooled odds ratios (ORs) and confidence intervals (CIs) for each SNP.

Main Results:

• The meta-analysis included 76 studies (89 cohorts) examining 77 SNPs in 34 genes.
• Twenty-two SNPs within 13 genes demonstrated statistically significant associations with HM.
• Key genes identified include ACAN, COL1A1, CRYBA4, LUM, MMP2, PAX6, RASGRF1, SNTB1, and TGFB1, among others.

Conclusions:

• This study identified 22 SNPs in 13 genes as potential genetic biomarkers for high myopia.
• These genetic variants may play a role in the susceptibility to HM.
• Further large-scale genome-wide association studies in diverse populations are recommended to validate these findings and uncover additional genetic factors.