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High myopia (HM) poses significant risks of severe ocular complications and blindness. 12 SNPs, including rs580839, have been associated with refractive errors in European and Asian populations, but their roles in Chinese cohorts remain unexplored. Their genetic association with HM is investigated in this study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genotyping of specific SNPs was conducted using multiplexed SNP\/exome capture sequencing in a cohort consisting of HM patients and emmetropic individuals. The 3DSNP and GTEx databases were used to identify the causal association between SNPs and regulated genes. In addition, a mouse form\u2013deprivation myopia (FDM) model was established, and retinal protein levels were quantified by the western blot analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Our study revealed that the heterozygous genotype of\n                      <jats:italic>GJD2<\/jats:italic>\n                      \u2010rs580839 (G\/A) was associated with HM in both the heterozygous (GA vs. GG:\n                      <jats:italic>p<\/jats:italic>\n                      = 0.021, OR\u2009=\u20091.433) and dominant (GA\u2009+\u2009AA vs. GG:\n                      <jats:italic>p<\/jats:italic>\n                      = 0.026, OR\u2009=\u20091.388) inheritance models. GTEx database indicates that the aforementioned risk genotypes (rs580839\u2010AG and rs580839\u2010AG\u2009+\u2009AA) are associated with the regulation of\n                      <jats:italic>GJD2<\/jats:italic>\n                      gene expression. In the FDM mouse model, a significant downregulation of C \u00d7 36 protein expression was observed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study showed a statistically suggestive association between rs580839 (\n                      <jats:italic>GJD2<\/jats:italic>\n                      ) and HM among the Han Chinese population. In addition, rs580839 may influence the pathogenesis of HM through the C \u00d7 36\u2010mediated pathway. However, further in vivo studies are required to elucidate the complex mechanisms that underlie HM development.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/joph\/8363695","type":"journal-article","created":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T05:07:05Z","timestamp":1778735225000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Association Study Between Refractive Error\u2013Related Genes and High Myopia in the Chinese Han 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