Abstract:AIM: To evaluate whether Wnt pathway-related genes previously implicated in high myopia(HM)could serve as candidate genes for HM in the Chinese Han population, and to identify risk loci associated with HM susceptibility.METHODS: A case-control association analysis was conducted, involving 530 HM patients(HM group)and 1 087 healthy controls. The test efficacy was estimated using Quanto software. Peripheral blood DNA was extracted using the magnetic bead method, and seven candidate single nucleotide polymorphisms(SNPs)were genotyped using the Sequenom MassARRAY system, including HIVEP3 rs17365632, rs35134694, rs11210537, CTNNB1 rs13072632, CAMK2N1 rs10753502, TCF4 rs41396445 and Wnt7B rs73175083. Differences in allele and genotype frequencies between the HM and healthy control groups were compared under different inheritance models. Haplotype analysis was performed using SHEsis plus.RESULTS: All 7 SNPs had a genotyping detection rate exceeding 90%, and were in Hardy-Weinberg equilibrium(P>0.05). The test efficacy of the sample size was above 90.13%, indicating that the samples were representative of the population. In the HM group, the A allele frequency of HIVEP3 rs11210537 was significantly reduced(Pc=0.003, OR=0.889). Conversely, the G allele frequency was significantly elevated(Pc=0.003, OR=1.176). In an additive genetic model(AA vs GG), the AA genotype frequency was significantly lower than the GG genotype frequency(Pc=0.003, OR=0.583). Additionally, the frequency of the CCA haplotype of rs17365632, rs35134694, and rs11210537 in HIVEP3 was decreased in the HM group compared to the control group(Pc=0.008, OR=0.791).CONCLUSION: The SNP locus rs11210537 in the HIVEP3 gene is associated with genetic susceptibility to HM in the Chinese Han population, with the G allele identified as risk genetic markers. The CCA haplotype of rs17365632, rs35134694, and rs11210537 in the HIVEP3 gene represents a protection haplotype for HM.
