目的：探讨既往报告的与高度近视(HM)相关的Wnt信号通路相关基因是否可作为中国汉族人群HM的候选基因，寻找与HM易感性关联的风险基因位点。方法：病例对照研究，纳入530例HM患者(HM组)及1 087名健康志愿者(健康对照组)，采用Quanto软件估计检验效能。利用磁珠法提取上述参与者外周血DNA后利用Sequenom MassARRAY系统的质谱法对候选的7个单核苷酸多态性(SNPs)位点进行基因分型(HIVEP3 rs17365632、rs35134694、rs11210537，CTNNB1 rs13072632，CAMK2N1 rs10753502，TCF4 rs41396445，Wnt7B rs73175083)。比较HM组与健康对照组的7个SNPs位点的基因型和等位基因分型差异，同时比较不同遗传模型下基因型频率的差异。采用SHEsis plus进行连锁不平衡分析和单倍体型分析。结果：本研究所选的7个SNPs分型检出率均高于90%，均符合哈迪-温伯格平衡(P>0.05)，样本量的检验效能均在90.13%以上，本研究样本有良好的群体代表性。HM组HIVEP3 rs11210537的A等位基因频率较对照组降低(Pc=0.003，OR=0.889)，G等位基因较对照组升高(Pc=0.003，OR=1.176)，加性遗传模型(AA vs GG)中AA基因型较GG基因型频率降低(Pc=0.003，OR=0.583)。HM组相较于对照组，HIVEP3中rs17365632、rs35134694、rs11210537的CCA单倍体型频率降低(Pc=0.008，OR=0.791)。结论：中国汉族人群HIVEP3基因SNP位点rs11210537与HM遗传易感性相关，其G等位基因为风险性遗传标记。HIVEP3基因的rs17365632、rs35134694、rs11210537的CCA单倍体型为HM的保护单倍体型。

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.