基质金属蛋白酶-2和-9基因多态性与结直肠癌的相关性

目的探讨基质金属蛋白酶（matrix metalloproteinase，MMP）-2和-9基因启动子区多态性与结直肠癌的关系。方法应用变性高效液相色谱法和限制性片段长度多态性分析方法分别检测126例结直肠癌患者和126名正常对照者的MMP-2—1306C/T和MMP-9—1562C／T多态性，分析其基因型与结直肠癌发病风险及临床病理参数的相关性。结果MMP-2—1306C／C基因型频率在结直肠癌组中显著高于对照组（P〈0．05），与CT＋TT基因型携带者比较，CC基因型携带者患结直肠癌的风险约增加2倍（OR：1．959；95％CI：1．055～3．637）。而且在结直肠癌中，MMP-2—1306C／T多态性与肿瘤的浸润深度之间差异有统计学意义（P〈0．05），CC基因型的肿瘤更容易浸润到外膜。MMP-9—1562C／T多态性的基因型及等位基因频率在结直肠癌组和对照组间的分布差异无统计学意义（P〉0．05）。结论MMP-2—1306C／T多态性可能与中国人群结直肠癌的遗传易感性相关，且CC基因型的肿瘤更易浸润到外膜。

The correlation between polymorphisms of matrix metalloproteinase-2 and -9 genes and colorectal cancer of Chinese Patients

Objective To investigate whether the polymorphisms of matrix metalloproteinase-2 (MMP-2) and-9 (MMP-9) promoters contribute to the development and progression of colorectal cancer in Chinese population. Methods the PCR-based denaturing high-performance liquid chromatography or PCR-restriction fragment length polymorphism technique respectively was applied to analyze the MMP-2-1306C/T and MMP-9-1562C/T polymorphisms in normal group (126 individuals) and colorectal cancer group (126 cases) . Genotype frequencies were compared between patients and matched controls, and the association of genotypes with clinical-pathological parameters was studied. Results The frequency of the CC genotype in the MMP-2 gene polymorphism was significantly increased in colorectal cancer patients when compared with controls (P<0.05), and individuals with the CC genotype had an increased risk of developing colorectal cancer compared to those with CT+TT genotypes (OR: 1.959; 95%CI: 1.055-3.637). Significant correlation was found between the depth of tumor invasion and MMP-2-1306C/T polymorphism in colorectal cancer patients. However, the genotype frequencies of MMP-9-1562C/T in colorectal cancer patients were similar to those in control subjects. Conclusion Our results indicate that MMP-2-1306 C/T polymorphism may be associated with genetic susceptibility to colorectal cancer and the invasive capability of colorectal cancer in Chinese patients. And it is easier for the CC genotype cancer to invade through bowel wall.