Genetic associations of high myopia.

Abstract

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 <i>ACAN</i> gene; rs2269336 in <i>COL1A1</i> gene; rs2071861 and rs2009066 in <i>CRYBA4</i> gene; rs339501 in <i>FGF10</i> gene; rs698047 in <i>HIVEP3</i> gene; rs3741834, rs2300588, rs3759223 and rs7135740 in <i>LUM</i> gene; rs9318086 in <i>MIPEP</i> gene; rs243845 and rs1861320 in <i>MMP2</i> gene; rs662702 and rs644242 in <i>PAX6</i> gene; rs8027411 and rs17175798 in <i>RASGRF1</i> gene; rs7839488, rs4395927 and rs6469937 in <i>SNTB1</i> gene; rs1800470 in <i>TGFβ1</i> gene; and rs7829127 in <i>ZMAT4</i> gene) showed significant associations with HM. This study identified 22 SNPs in 13 genes (<i>ACAN</i>, <i>COL1A1</i>, <i>CRYBA4</i>, <i>FGF10</i>, <i>HIVEP3</i>, <i>LUM</i>, <i>MIPEP</i>, <i>MMP2</i>, <i>PAX6</i>, <i>RASGRF1</i>, <i>SNTB1</i>, <i>TGFβ1</i> and <i>ZMAT4</i>) as potential genetic biomarkers for HM. Future research should conduct large-scale genome-wide association studies across diverse populations to yield more robust evidence.