细胞周期调控基因p21和p27单核苷酸多态性与卵巢上皮性癌的关系

目的 探讨细胞周期调控基因p21和p27的单核苷酸多态性(SNP)与卵巢上皮性癌(卵巢癌)发病风险的关系.方法 采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测234例卵巢癌患者(卵巢癌组)和284例健康妇女(对照组)p21基因C/T和p27基因V/G SNP位点基因型和等位基因的频率分布.结果 (1)对照组妇女p21基因的C/C、C/T和T/T基因型频率分别为34.2%、49.6%和16.2%,C和T等位基因频率分别为59.0%和41.0%;卵巢癌组患者3种基因型频率分别为28.2%、53.0%和18.8%,C和T等位基因频率分别为54.7%和45.3%.两组基因型频率和等位基因频率分别比较,差异均无统计学意义(P＞0.05).3种基因型频率在4种病理类型的卵巢癌中的分布有明显差异(P=0.02),C/C基因型降低子宫内膜样癌的发病风险(OR为0.56,95%CI为0.32～0.98).(2)对照组妇女p27基因V/V、V/G和G/G基因型频率分别为88.4%、10.9%租0.7%,V和G等位基因频率分别为93.8%和6.2%;卵巢癌组患者的基因型频率分别为93.6%、5.1%和1.3%,V和G等位基因频率分别为96.2%和3.8%.两组基因型频率分布比较,差异有统计学意义(P=0.04),等位基因频率分布比较,差异则无统计学意义(P=0.09).与V/G和G/G基因型比较,V/V基因型增加卵巢癌的发病风险(OR为1.92,95%CI为1.02～3.63).结论 p21基因C/T多态性的C/C基因型可能降低子宫内膜样癌的发病风险,p27基因的V/V基因型可能是卵巢癌发病的潜在危险因素.

Single nucleotide polymorphisms in cell cycle regulator p21 and p27 genes are associated with susceptibility to epithelial ovarian cancer

OBJECTIVE: To investigate the association of single nucleotide polymorphisms (SNP) in p21 and p27 genes with the risk of epithelial ovarian cancer (EOC). METHODS: Genotypes were analyzed by polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP) method in 234 patients with EOC and 284 control women in China. RESULTS: (1) The frequencies of the p21 in healthy controls were 34.2%, 49.6% and 16.2%, while the distribution of the C and T allele was 59.0% and 41.0%, respectively. The p21 C/C (28.2%), C/T (53.0%), T/T (18.8%) distribution in ovarian cancer patients was not significantly different from that in healthy controls (P > 0.05). There was no statistic difference in allele distribution between ovarian cancer patients and healthy controls (P > 0.05) either. The stratification analysis by tumor histological type did show that the genotype distribution in four types of ovarian cancer patients was significantly different from that in healthy controls (P = 0.02) . The C/C genotype was likely to reduce the risk of epithelial endometrial cancer, and the adjusted odds ratio was 0.56 (95% CI:0.32-0.98). (2) The genotype frequencies of the p27 in healthy controls were 88.4%, 10.9% and 0.7%, while the distribution of the V and G allele was 93.8% and 6.2%, respectively. The V/V (93.6%), V/G (5.1%) and G/G (1.3%) distribution in ovarian cancer patients was significantly different from that in healthy controls (P = 0. 04). There was no statistic difference in allele distribution between ovarian cancer patients and healthy controls (P > 0.05). Compared with the V/G and G/G genotypes, the V/V genotype increased the risk of EOC, the adjusted odds ratio was 1.92 (95% CI: 1.02-3.63). CONCLUSION: The C/C genotype of p21 may reduce the risk of epithelial endometrial cancer, and the genotype of p27 V/V may be a potential risk factor for susceptibility to EOC.