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目的探讨基质金属蛋白酶(MMP)1、3基因启动子区多态性与卵巢癌遗传易感性的关系。方法采用限制性片段长度多态性聚合酶链反应(PCRRFLP)分析122例上皮性卵巢癌患者(卵巢癌组)和151例同一地区的健康汉族妇女(对照组)MMP1和MMP3的基因型。结果卵巢癌组MMP1的2G和1G等位基因频率分别为68.0%、32.0%,对照组分别为66.9%、33.1%,两组比较,差异无统计学意义(P>0.05);卵巢癌组1G/1G、1G/2G和2G/2G3种基因型频率分布分别为16.4%、31.1%和52.5%,对照组分别为16.6%、33.1%和50.3%,两组比较,差异无统计学意义(P>0.05);与1G/1G基因型相比,2G/2G和2G/2G+1G/2G基因型经年龄校正的卵巢癌发病的OR分别为1.05(95%CI=0.53～2.07)和1.00(95%CI=0.52～1.90)。MMP3的5A、6A等位基因频率在卵巢癌组和对照组中分别为17.2%、82.8%和20.2%、79.8%,两组比较,差异无统计学意义(P>0.05);5A/5A、5A/6A、6A/6A基因型频率分布在两组间也无明显差异,两组相比,差异无统计学意义(P>0.05);与6A/6A基因型相比,5A/5A+5A/6A基因型经年龄校正的卵巢癌发病的OR为1.34(95%CI=0.81～2.23)。MMP1的2G等位基因和MMP3的6A等位基因存在完全连锁不平衡(χ2=56.53,P<0.01)。结论MMP1的1G或2G基因多态性及MMP3的5A或6A基因多态性与卵巢癌的遗传易感性无关。
Objective To investigate the relationship between the promoter region polymorphisms of matrix metalloproteinase (MMP) 1,3 and genetic susceptibility to ovarian cancer. Methods The genotypes of MMP1 and MMP3 in 122 cases of epithelial ovarian cancer (ovarian cancer group) and 151 healthy Han women (control group) from the same area were analyzed by restriction fragment length polymorphism polymerase chain reaction (PCRRFLP). Results The frequencies of the 2G and 1G alleles of MMP1 in ovarian cancer group were 68.0% and 32.0%, respectively, while those in the control group were 66.9% and 33.1% respectively. There was no significant difference between the two groups (P> 0.05) The frequency distributions of the genotypes 1G, 1G / 2G and 2G / 2G were 16.4%, 31.1% and 52.5% respectively, while those in the control group were 16.6%, 33.1% and 50.3% respectively. There was no significant difference between the two groups > 0.05). Compared with the 1G / 1G genotype, ORs of age-adjusted ovarian cancers for 2G / 2G and 2G / 2G + 1G / 2G genotypes were 1.05 (95% CI = 0.53-2.07) and 1.00 95% CI = 0.52 ~ 1.90). The frequencies of 5A and 6A alleles of MMP3 in ovarian cancer group and control group were 17.2%, 82.8% and 20.2%, 79.8%, respectively. There was no significant difference between the two groups (P> 0.05) The frequency distribution of 5A / 6A and 6A / 6A genotypes had no significant difference between the two groups. There was no significant difference between the two groups (P> 0.05). Compared with 6A / 6A genotype, 5A / 5A + The OR of age-adjusted ovarian cancer with / 6A genotype was 1.34 (95% CI = 0.81-2.23). There was a complete linkage disequilibrium between the 2G allele of MMP1 and 6A allele of MMP3 (χ2 = 56.53, P <0.01). Conclusion The polymorphisms of 1G or 2G gene of MMP1 and 5A or 6A gene polymorphisms of MMP3 are not associated with the genetic susceptibility to ovarian cancer.