International Journal of Clinical Oncology

, Volume 24, Issue 2, pp 179–188 | Cite as

Correlations between CYP3A4 polymorphism and susceptibility to breast cancer in Chinese Han population

  • Xu Liu
  • Xi Huang
  • Shanshan Zhang
  • Fanglin Niu
  • Yongri Ouyang
  • Zhexing ShouEmail author
  • Jikui LiuEmail author
Original Article



CYP3A4 is a major enzyme catalyzing the metabolism of endogenous steroids that play an important role in the etiology of carcinogenesis. This study was designed to investigate the contribution of CYP3A4 polymorphism to breast cancer in Chinese Han female population.


To examine whether variants of CYP3A4 contribute to breast cancer, 5 single-nucleotide polymorphisms (SNPs) of CYP3A4 were genotyped by Sequenom MassARRAY in 267 breast cancer patients and 302 healthy controls. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression adjusted for age.


We found that the TT genotype of CYP3A4*1G (rs2242480) polymorphism was associated with increased risk of breast cancer using the fixed effects model (recessive model: OR = 2.34, p = 0.018). Stratified according to age, CYP3A4*1G increased the risk of breast cancer especially in less than 50-year-old group (codominant model OR = 3.68, p = 0.041; recessive model: OR = 3.55, p = 0.012). Furthermore, TT genotype of rs2242480 was associated with Cerb-B2 positive (recessive model: OR = 2.47, p = 0.025) and stage I/II (recessive model: OR = 2.32, p = 0.041). However, no statistically significant associations in other polymorphisms and haploview analysis were observed.


This study provides an evidence for polymorphism of CYP3A4 gene associated with the development of breast cancer, also a new insight into etiology of breast cancer. However, the underlying mechanism of the CYP3A4 gene in breast cancer is necessary for further study.


CYP3A4 gene Polymorphism Breast cancer Susceptibility 



This study was funded by Sanming Project of Medicine in Shenzhen (No. SZSM201612021) and Science-Technology Developing Project of Guangdong Province (No. 2017B090904010). We are grateful to the individuals for their participation in this study. We also thank the clinicians and hospital staff who contributed to the sample and data collection for this study. We would also like to thank all participants for this manuscript. Special thanks go to Zhijun Dai (Department of Oncology, The Second Affiliated Hospital, Xi’an Jiaotong University) for the sample and data collection and Bo Xu (Department of Bioinformatics, College of Life Sciences, Northwest Agriculture and Forestry University) for helpful checking our statistical methods.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.


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Copyright information

© Japan Society of Clinical Oncology 2018

Authors and Affiliations

  1. 1.Department of Hepato-Pancreato-Biliary SurgeryPeking University Shenzhen HospitalShenzhenChina
  2. 2.Department of Thyroid and Breast SurgeryPeking University Shenzhen HospitalShenzhenChina
  3. 3.Key Laboratory of Resource Biology and Biotechnology in Western China (Northwest University), Ministry of EducationXi′anChina
  4. 4.Department of Integrated Traditional Chinese and Western Medicine, Union Hospital, Tongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina

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