Li Xiao-Ping, Lan Jian-Yun, Liu Dong-Qin, Zhou Hang, Qian Miao-Miao, Wang Wei-Wei, Yang Man
Department of Laboratory Medicine, The Hospital Of Hangzhou Dianzi University, Hangzhou, Zhejiang, China.
Department of Pathology, The First People's Hospital of Yancheng City, Yancheng, Jiangsu, China.
Gene. 2018 Apr 20;651:161-165. doi: 10.1016/j.gene.2018.01.100. Epub 2018 Feb 2.
Genome-wide association study (GWAS) studies have showed that single nucleotide polymorphisms (SNPs) in OCA2 gene were associated with the survival of breast cancer patients treated with adjuvant chemotherapy. To further explain the association between OCA2 SNPs and breast cancer survival, we investigated the predictive value of rs4778137 located in OCA2 in local advanced breast cancer patients receiving neoadjuvant chemotherapy.
A case-cohort with 150 breast cancer patients was performed to evaluate the effects of the OCA2 rs4778137 on breast cancer survival. The association between rs4778137 genotypes and pathological complete response (pCR, defined that the postoperative pathology indicating no residual invasive breast cancer in the breast or the axillary lymph node) were analyzed. Logistic regression analysis was performed to identify the independent predictors of pCR. Survival was assessed by Kaplan-Meier method and Cox regression analysis according to the rs4778137 genotypes.
The differences between pCR and the rs4778137 genotypes were statistically significant (p < 0.05). The patients with genotype GG harbored a better disease-free survival (HR: 2.358, p = 0.000) and overall survival (HR: 1.578, p = 0.008) than the patients with genotype CC in rs4778137. The further Univariate and Multivariate survival analysis revealed that SNP rs4778137 was an independent predictive factor of disease-free survival (p = 0.000/p = 0.001) and overall survival (p = 0.006/p = 0.045).
The OCA2 rs4778137 may be a predictor for the clinical response and survival in local advanced breast cancer patients who received neoadjuvant chemotherapy.
全基因组关联研究（GWAS）表明，OCA2基因中的单核苷酸多态性（SNP）与接受辅助化疗的乳腺癌患者的生存情况相关。为进一步解释OCA2 SNP与乳腺癌生存之间的关联，我们研究了位于OCA2基因中的rs4778137对接受新辅助化疗的局部晚期乳腺癌患者的预测价值。
选取150例乳腺癌患者组成病例队列，以评估OCA2 rs4778137对乳腺癌生存的影响。分析rs4778137基因型与病理完全缓解（pCR，定义为术后病理显示乳腺或腋窝淋巴结无残留浸润性乳腺癌）之间的关联。采用逻辑回归分析确定pCR的独立预测因素。根据rs4778137基因型，采用Kaplan-Meier法和Cox回归分析评估生存率。
pCR与rs4778137基因型之间的差异具有统计学意义（p < 0.05）。rs4778137基因型为GG的患者比基因型为CC的患者具有更好的无病生存率（HR：2.358，p = 0.000）和总生存率（HR：1.578，p = 0.008）。进一步的单因素和多因素生存分析显示，SNP rs4778137是无病生存率（p = 0.000/p = 0.001）和总生存率（p = 0.006/p = 0.045）的独立预测因素。
OCA2 rs4778137可能是接受新辅助化疗的局部晚期乳腺癌患者临床反应和生存的预测指标。
