UGT2B4基因RS1826690单核苷酸多态性对乳腺癌新辅助化疗病理完全缓解的影响

Effect of single nucleotide polymorphisms of RS1826690 located in UGT2B4 gene on the pathological complete response to neoadjuvant chemotherapy in breast cancer patients

目的探讨UGT2B4基因RS1826690单核苷酸多态性与乳腺癌新辅助化疗病理完全缓解（pCR）的相关性。 方法采用Sequenom方法检测146例乳腺癌新辅助化疗患者RS1826690单核苷酸多态性。使用χ2检验和Fisher′s精确概率法分析RS1826690单核苷酸多态性与pCR相关性，采用多因素logistic回归分析pCR的独立预测因素。 结果RS1826690位点CC、CT、TT基因型频率分别为20.6%（30例）、39.7%（58例）、39.7%（58例）。共39例（26.7%）达pCR，CC、CT、TT型pCR分别为14例（46.7%）、7例（12.1%）、18例（30.0%），差异有统计学意义（χ2＝16.684，P＝0.003）。多因素logistic回归分析提示临床分期、靶向治疗、淋巴结分期、RS1826690单核苷酸多态性（CC vs CT，95% CI： 2.311～28.810，P＝0.001）是pCR的独立预测因素（P〈0.05）。RS1826690基因单核苷酸多态性与ER状态差异有统计学意义（χ2＝7.872, P＝0.020）。 结论UGT2B4基因RS1826690单核苷酸多态性与新辅助化疗pCR相关，CC基因型的新辅助化疗患者更易出现pCR。

ObjectiveTo evaluate the association between single nucleotide polymorphisms（SNPs）of RS1826690 located in UGT2B4 gene and pathological complete response（pCR）to neoadjuvant chemotherapy in breast cancer patients. MethodsA total of 146 breast cancer patients were enrolled to detect the SNPs of RS1826690 by sequenom.The relationship between SNPs of RS1826690 and pCR,predictors of pCR were analyzed by univariate or multivariate analysis. ResultsThe frequency of CC,CT and TT genetype of RS1826690 was 20.6%,39.7% and 39.7%,respectively.Of the 171 patients,pCR was achieved in 39 cases（26.7%）,with CC allele in 14 cases,CT allele in 7 cases and TT allele in 18 cases,and statistically significant difference was observed（χ2=16.684,P=0.003）.Multivariate logistic regression analysis showed that SNPs of RS1826690 was an independent predictor of pCR（95% CI：2.311-28.810,P=0.001）.SNPs of RS1826690 was statistically associated with estrogen receptor（ER）status（χ2=7.872,P=0.020）. ConclusionSNPs of RS1826690 was associated with pCR,and breast cancer patients with CC allele were more likely to achieve pCR.