基质金属蛋白酶-9基因多态性与食管鳞状细胞癌易感性的关联研究

Correlation between the polymorphism of matrix metalloproteinase-9 and esophageal squamous cell carcinoma patients in Southwest China

目的研究基质金属蛋白酶-9(matrix metalloproteinsase-9,MMP-9)基因多态性与中国西南地区人群食管鳞状细胞癌(esophageal squamous cell carcinoma,ESCC)的关联性。方法应用聚合酶链反应-限制性片段长度多态性(poly-merase chain reaction-restriction fragment length polymorphisms,PCR-RFLPs)方法检测235例食管鳞状细胞癌病例组及300例健康对照组的MMP-9 R279Q基因多态性的分布情况。结果ESCC患病组和健康对照组MMP-9 279R、279Q等位基因频率分别为57.7%、42.3%和51.5%、48.5%,二者有显著性差异(χ2=4.08,P=0.04);MMP-9 279R/R基因型频率在ESCC病例组(40.5%)中显著高于对照组(29.0%)(χ2=20.08,P=0.01);当按年龄进行分层分析时,与Q/Q基因型相比,R/R基因型能明显增加50岁以下人群ESCC的发病风险(校正OR值为3.39,95%CI为1.23～9.29)。结论携带有MMP-9 279R等位基因的人群与ESCC易感性有显著关联性,MMP-9 279R/R基因型可增加患ESCC的风险。在中国西南地区人群中MMP-9 R279Q基因多态性可能是ESCC发生的危险因素之一。

Objective To investigate the Matrix metalloproteinsase-9 （MMP-9） gene correlation between the single nucleotide polymorphism （SNP） and esophageal squamous cell carcinoma patients in Southwest China. Methods The polymerase chain reaction-restriction fragment length polymorphisms （PCR-RFLPs） technique was applied to analyze the MMP-9 R279Q polymorphism in normal group （300） and ESCC group （235）. Results Frequencies of the MMP-9 279R and 279Q allele distribution in ESCC patients and healthy control were 57.7% , 42.3% and 51.5% , 48.5% , respectively （ X2 = 4.08, P = 0.04）. The frequency of the R/R genotype in the MMP-9 gene polymorphism increased significantly in ESCC patients （40.5%） as com- pared with that in the controls （29.0%） （ X2 = 20.08, P = O. 01 ）. Age-stratified analysis showed R/R genotype significantly increased the risk of ESCC in individuals younger than 50 years （adjusted OR = 3. 39, 95% CI = 1.23 -9.29）. Conclusion The R allele of MMP-9 gene R279Q might be associated with the in- creased susceptibility to ESCC. The R homozygote might increase the risk of ESCC. Our results indicated that MMP-9 R279Q polymorphism might be associated with genetic susceptibility to ESCC in Southwest Chinese population.