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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

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

摘要:

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.

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abstracts:

Objective To investigate the association of single nucleotide polymorphisms(SNP)in p21and 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 distributionbetween 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.

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