Association of transcription factor 7-like 2 gene polymorphisms with breast cancer risk in northwest Chinese women

// Weili Min 1 , Xinghan Liu 1 , Ye Lu 2 , Zhuoqing Gong 3 , Meng Wang 1 , Shuai Lin 1 , Huafeng Kang 1 , Tianbo Jin 1 , Xijing Wang 1 , Xiaobin Ma 1 , Kang Liu 1 , Cong Dai 1 , Yi Zheng 1 , Shanli Li 1 , Qingyong Ma 4 , Zhijun Dai 1 1 Department of Oncology, Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710004, China 2 Department of Student Affairs, Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710004, China 3 Department of Health Science Center, Xi’an Jiaotong University, Xi’an 710061, China 4 Department of Hepatobiliary Surgery, First Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710061, China Correspondence to: Zhijun Dai, email: dzj0911@xjtu.edu.cn ; dzj0911@126.com Keywords: TCF7L2, breast cancer, susceptibility Received: July 01, 2016     Accepted: September 29, 2016     Published: October 12, 2016 ABSTRACT Genetic variations in transcription factor 7-like 2 (TCF7L2) are associated with cancer risk. This study was conducted to establish the relationship between TCF7L2 polymorphisms (rs1225404, rs7003146, and rs7903146) and clinical features and risk of breast cancer in Northwest Chinese Han women. In this study, three polymorphisms of TCF7L2 (rs1225404, rs7003146, and rs7903146) were genotyped in 458 patients with breast cancer and 500 healthy controls using the Sequenom MassARRAY-iPLEX system. We evaluated the associations between the polymorphisms and breast cancer using odds ratios (ORs) and corresponding 95% confidence intervals (95% CIs). The C allele of rs1225404 was associated with increased breast cancer risk (OR = 1.58, P = 0.0004, P C = 0.0012), whereas the G allele of rs7003146 was associated with decreased breast cancer risk (OR = 0.71, P = 0.01, P C = 0.03). Furthermore, the rs1225404 polymorphism positively correlated with negative progesterone receptor status. A positive correlation with positive estrogen receptor (ER) status was observed for the rs7003146 polymorphism. Our results suggest that TCF7L2 polymorphisms rs1225404 and rs7003146, but not rs7903146, may affect breast cancer risk in Northwest Chinese women. Additionally, the tag polymorphisms in TCF7L2 are associated with the clinical features of breast cancer, which may provide us novel insight into the pathogenesis of breast cancer.