Genetic associations of high myopia

The impact of genetic variants on high myopia (HM) remains unclear. This study aims to systematically evaluate the relationship between genetic polymorphisms and HM.

Eligible studies were retrieved from five databases (PubMed, Web of Science, Cochrane, Embase and Scopus) up to 18 January 2025. We included all case-control studies that examined the association of single nucleotide polymorphisms (SNPs) with HM susceptibility. Fixed or random effects models were used to evaluate pooled ORs and CIs for each SNP in HM. Sensitivity analyses were conducted to assess the reliability and stability of the results.

Seventy-six studies (89 separate cohorts) were eligible for the meta-analysis of HM, involving 77 SNPs in 34 genes. Twenty-two SNPs in 13 genes (rs1516794 in ACAN gene; rs2269336 in COL1A1 gene; rs2071861 and rs2009066 in CRYBA4 gene; rs339501 in FGF10 gene; rs698047 in HIVEP3 gene; rs3741834, rs2300588, rs3759223 and rs7135740 in LUM gene; rs9318086 in MIPEP gene; rs243845 and rs1861320 in MMP2 gene; rs662702 and rs644242 in PAX6 gene; rs8027411 and rs17175798 in RASGRF1 gene; rs7839488, rs4395927 and rs6469937 in SNTB1 gene; rs1800470 in TGFβ1 gene; and rs7829127 in ZMAT4 gene) showed significant associations with HM.

This study identified 22 SNPs in 13 genes (ACAN, COL1A1, CRYBA4, FGF10, HIVEP3, LUM, MIPEP, MMP2, PAX6, RASGRF1, SNTB1, TGFβ1 and ZMAT4) as potential genetic biomarkers for HM. Future research should conduct large-scale genome-wide association studies across diverse populations to yield more robust evidence.