【摘要】 [目的]研究Dicer1基因单核苷酸多态性与浙江地区BRCA1/BRCA2阴性家族性乳腺癌易感性的相关性。[方法]选择3个单核苷酸多态性位点(rs74899136、rs2297730和rs147668333),采用PCR测序方法对65例BRCA1/BRCA2阴性家族性乳腺癌患者和100名健康女性进行分析,χ2检验比较两组在等位基因和基因型分布频率上的差异,非条件Lo-gistic回归评价多态性位点与乳腺癌易感性的相关性。[结果]rs2297730的G等位基因和A/G基因型在乳腺癌病例组中的分布频率显著高于对照组(OR=1.873,95%CI:1.174～2.988,P=0.008;OR=3.133,95%CI:1.562～6.287,P=0.004)。另外2个多态性位点等位基因和基因型分布频率在两组间无显著差异(P>0.05)。rs2297730在共显性、显性、超显性以及加性遗传模式下与乳腺癌相关(P<0.05),最佳遗传模式为显性。[结论]Dicer1基因rs2297730与浙江地区BRCA1/BRCA2阴性家族性乳腺癌易感性相关。更多还原

【Abstract】 [Purpose] To investigate the association between single nucleotide polymorphism(SNP) of Dicer1 gene and susceptibility to BRCA1/BRCA2 negative familial breast cancer in Zhejiang.[Methods] Polymerase chain reaction-sequencing assay was employed to detect 3 SNPs(rs74899136,rs2297730 and rs147668333)of Dicer1 in 65 BRCA1/BRCA2 negative familial breast cancer patients and 100 controls.χ2 test was used to compare the distributions of allele and genotype frequencies between breast cancer group and control group.The association of the SNPs and susceptibility to breast cancer was examined by non-conditional Logistic regression.[Results] The frequencies of G allele and A/G genotype of rs2297730(IVS12-91 A>G) were higher in familial breast cancer group than those in control group(OR=1.873,95%CI:1.174～2.988,P=0.008;OR=3.133;95%CI:1.562～6.287,P=0.004).No significant difference between breast cancer patients and controls was observed in the allele and genotype distribution of other 2 SNPs(P>0.05).According to the minimum value of Akaike’s Information Criterion(AIC),the best genetic model for rs2297730 was dominant.[Conclusion] Dicer1 rs2297730 is associated with risk of BRCA1/BRCA2 negative familial breast cancer in Zhejiang.更多还原