Association of three single nucleotide polymorphisms of ESR1with breast cancer susceptibility: a meta-analysis

Abstract

Expression of estrogen receptors is correlated with breast cancer risk, but inconsistent results have been reported. To clarify potential estrogen receptor (ESR)-related breast cancer risk, we analyzed genetic variants ofESR1 in association with breast cancer susceptibility. We performed a meta-analysis to investigate the association between rs2234693, rs1801132, and rs2046210 (single nucleotide polymorphisms ofESR1), and breast cancer risk. Our analysis included 44 case-control studies. For rs2234693, the CC genotype had a higher risk of breast cancer compared to the TT or CT genotype. For rs2046210, the AA, GA, or GA+ GG genotype had a much higher risk compared to the GG genotype. No significant association was found for the rs1801132 polymorphism with breast cancer risk. This meta-analysis demonstrates association between the rs2234693 and rs2046210 polymorphisms ofESR1 and breast cancer risk. The correlation strength between rs2234693 and breast cancer susceptibility differs in subgroup assessment by ethnicity.

Keywords

breast cancer / estrogen receptor alpha / meta-analysis / single nucleotide polymorphism

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Acknowledgments

This work was supported by the National Natural Science Foundation of China (No. 81373102 to YZ, No. 61301251 to LG); the Natural Science Foundation of the Jiangsu Higher Education Institutions of China (No. 12KJB310003); Priority Academic Program Development of Jiangsu Higher Education Institution (PAPD); and Flagship Major Development of Jiangsu Higher Education Institutions. This study is also supported by the Qing-lan Project of Jiangsu Province and the Excellent Young Teach Project of Nanjing Medical University. Xu Hu contributed to data analysis and manuscript preparation. Linfei Jiang, Chenhui Tang, Yuehong Ju and Li Jiu also performed data analysis and prepared the manuscript. Li Jiu helped polish the language of the manuscript. Yongyue Wei and Li Guo helped perform analysis and contributed constructive discussions. Yang Zhao contributed to the conception and design of the study. The final version was approved by all the above authors.

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