目的：探讨基质金属蛋白酶9(extracellular matrix metalloprotease 9，MMP-9)基因单核苷酸多态性(single nucleotide polymorphism，SNP)与汉族人群原发性闭角型青光眼(primary angle closure glaucoma，PACG)易感性的关联。

方法：选取我院2014-01/2016-12收治的200例汉族PACG患者作为PACG组，同时招募200例汉族体检健康者作为正常对照组。常规外周静脉采集，提取全血基因组DNA，采用聚合酶链反应-限制性片段长度多态性技术(polymerase chain reaction- restriction fragment length polymorphism，PCR-RFLP)检测两组受检者MMP-9基因rs2250889、rs2274755及rs2664538位点等位基因及基因型，分析等位基因和基因型频率分布及其与PACG易感性之间的关系。

结果：两组受检者年龄、性别、体质量指数、血压等一般资料差异均无统计学意义(P>0.05)。MMP-9基因rs2250889、rs2274755及rs2664538位点基因型频率均符合哈迪-温伯格平衡(Hardy-Weinberg equilibrium)。两组受检者rs2250889和rs2664538位点基因型及等位基因频率分布差异均有统计学意义(P<0.05)，而rs2274755位点基因型及等位基因频率分布差异均无统计学意义(P>0.05)。rs2250889位点中携带CC基因型人群为PACG的易感人群。同样，rs2664538位点中携带GG基因型人群为PACG的易感人群。

结论：汉族人群中，MMP-9基因rs2250889和rs2664538位点多态性与 PACG 的发病存在一定关联，而rs2274755位点多态性与PACG的易感性无关。

METHODS: Totally 200 PACG patients(PACG group)and 200 healthy people(normal control group)were collected in our hospital from January 2014 to December 2016. Peripheral venous blood was collected and extracted for genomic DNA, the polymerase chain reaction-restriction fragment length polymorphism technique(PCR-RFLP)was applied to detect the alleles and genotypes of rs2250889, rs2274755 and rs2664538 sites in MMP-9 gene. The frequency distribution of alleles and genotypes in the two groups were calculated by chi-square test, and its association with genetic susceptibility of PACG was analyzed.

RESULTS: There were no statistical differences in age, gender, body mass index, diastolic blood pressure and systolic blood pressure in the two groups(P>0.05). The genotype frequencies of rs2250889, rs2274755 and rs2664538 sites in MMP-9 gene were in line with Hardy-Weinberg equilibrium. The genotype and allele frequency distribution of rs2250889 and rs2664538 sites were significantly different between the PACG group and the normal control group(P<0.05), while the genotype and allele frequency distribution of rs2274755 sites in the two groups had no statistical difference(P>0.05). The subjects whose rs2250889 site carrying the CC genotype was susceptible to PACG. Similarly, the rs2664538 site carrying the GG genotype was susceptible to PACG.

CONCLUSION: The rs2250889 and rs2664538 polymorphisms of MMM-9 are correlated with the risk of PACG in a Han Chinese population, while the rs2274755 polymorphism is not related to genetic susceptibility of PACG.