OCA2基因rs4778137单核苷酸多态性与乳腺癌新辅助化疗病理完全缓解的相关性

Correlation between single nucleotide polymorphisms of rs4778137 located in OCA2 gene and clinical response of breast cancer patients receiving neoadjuvant chemotherapy

目的探讨OCA2基因rs4778137单核苷酸多态性对乳腺癌新辅助化疗病理完全缓解(pCR)的影响。方法选取河南大学院淮河医院2014年1月至2017年5月收治的140例乳腺癌新辅助化疗患者,采用DNA提取试剂盒提取外周血DNA,使用Sequenom方法检测rs4778137单核苷酸多态性,分析其与pCR的相关性。结果Rs4778137位点CC、GC、GG基因型频率分别为48.6%(68例)、31.4%(44例)、20.0%(28例)。共30例(21.4%)达pCR,CC、GC、GG基因型pCR率分别为13.2%(9例)、22.7%(10例)、39.3%(11例),差异有统计学意义(P<0.05)。对雌激素受体(ER)状态分层分析发现,rs4778137单核苷酸多态性仅在ER阴性患者中与pCR相关(P<0.05)。logistic回归分析显示分子分型、肿瘤大小、靶向治疗、rs4778137单核苷酸多态性是pCR的独立预测因素(P<0.05)。rs4778137单核苷酸多态性是ER阴性患者pCR的独立预测因素(P<0.05),但在ER阳性患者中,rs4778137与pCR不相关(P>0.05)。结论OCA2基因rs4778137单核苷酸多态性与ER阴性患者新辅助化疗pCR相关,GG基因型携带者更易出现pCR。

Objective To evaluate the correlation between single nucleotide polymorphisms(SNPs)of rs4778137 located in OCA2 gene and clinical response of breast cancer patients receiving neoadjuvant chemotherapy.Methods A total of 140 breast cancer patients receiving neoadjuvant chemotherapy were enrolled to detect DNA in blood sample by DNA extraction kit and the rs4778137 polymorphism by sequenom.The relationship between SNPs of rs4778137 and pathologic complete response(pCR)were analyzed.Results The frequency of CC,GC and GG genetype of rs4778137 was 48.6%,31.4%and 20.0%,respectively.Thirty cases(21.4%)achieved pCR with CC allele in 9 cases(13.2%),GC allele in 10 cases(22.7%)and GG allele in 11 cases(39.3%),respectively,with a statistically significant difference(P<0.05).When conducting stratified analysis in accordance with the estrogen receptor(ER)status,only in ER negative group pCR was significantly associated with SNPs of rs4778137(P<0.05).SNPs of Rs4778137,targeted therapy,subtypes,tumor stage were independent predictors of pCR in multivariate logistic regression analysis(P<0.05),and SNPs of rs4778137 was an independent predictors of pCR in ER negative group(P<0.05),but not in ER positive group group(P>0.05).Conclusion SNPs of rs4778137 was associated with pCR only in ER negative patients receiving neoadjuvant therapy,and breast cancer patients with the GG allele were more likely to achieve pCR.