【摘要】 目的研究基质金属蛋白酶1(metal matrix proteinase-1,MMP-1)启动子区-1607bp处1G或2G单核苷酸多态性(single nucleotide polymorphism,SNP)与中国北方人非小细胞肺癌(non-small cell lung carcinoma,NSCLC)遗传易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)方法分析159名NSCLC患者和350名健康对照的MMP-1启动子区SNP的基因型。结果NSCLC患者组和健康对照组的2G/2G、1G/2G、1G/1G基因型频率分别为54.1%、33.9%、12.0%和55.4%、30.0%、14.6%,两组间分布无显著性差异(χ2=1.13,P=0.57);病例组和对照组的2G和1G等位基因频率分别为71.1%、28.9%和70.4%、29.6%,两组间亦无显著性差异(χ2=0.04,P=0.84);根据吸烟状况及病理类型进行分层分析,未发现该基因多态性对NSCLC易感性的影响;在有或无淋巴转移患者组中MMP-1等位基因及基因型频率相似。结论MMP-1启动子区SNP与中国北方人的NSCLC发病易感性及淋巴转移无明显关系。更多还原

【Abstract】 Objective:To investigate the association of a single nucleotide polymorphism (SNP) in the promoter region of-1670 bp of the human matrix metalloproteinase-1 (MMP-1) gene (-1607 1G/2G) with genetic susceptibility of North Chinese to non-small cell lung carcinoma (NSCLC).Methods:The SNP of MMP-1 gene in the promoter region was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods in 159 NSCLC patients and 350 unrelated healthy controls.Results:The detection frequencies of the 2G/2G, 1G/2G, 1G/1G genotypes in NSCLC patients and healthy controls were 54.1%,33.9%,12.0% and 55.4%, 30.0%, 14.6%, respectively. The distribution of MMP-1 genotype was not significantly different between NSCLC patients and healthy controls ( χ 2=1.13, P =0.57). The 2G and 1G allele frequencies in NSCLC patients and healthy controls were 71.1%,28.9% and 70.4%,29.6%,respectively. The difference was also not significant ( χ 2=0.04, P =0.84). No significant influence of MMP-1 polymorphism on susceptibility to NSCLC was found by stratification analysis according to smoking status and histological type. The genotype distribution in NSCLC patients with and without lymphatic metastasis was not significantly different.Conclusion:The present data suggest that the SNP in the MMP-1 promoter region might not be associated with the risk and lymphatic metastasis of NSCLC in North Chinese.更多还原