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Article

Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women

1
Guangzhou Center for Disease Control and Prevention, Guangzhou 510440, China
2
School of Biotechnology, Southern Medical University, Guangzhou 510515, China
3
Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research, Barcelona 08908, Spain
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Int. J. Mol. Sci. 2015, 16(2), 4121-4135; https://doi.org/10.3390/ijms16024121
Submission received: 3 November 2014 / Revised: 21 January 2015 / Accepted: 4 February 2015 / Published: 13 February 2015
(This article belongs to the Special Issue Emerging Classes of Biomarkers for Molecular Diagnostics)

Abstract

Exposure to high levels of estrogen is considered an important risk factor for susceptibility to breast cancer. Common polymorphisms in genes that affect estrogen levels may be associated with breast cancer risk, but no comprehensive study has been performed among Han Chinese women. In the present study, 32 single-nucleotide polymorphisms (SNPs) in estrogen-related genes were genotyped using the MassARRAY IPLEX platform in 1076 Han Chinese women. Genotypic and allelic frequencies were compared between case and control groups. Unconditional logistic regression was used to assess the effects of SNPs on breast cancer risk. Associations were also evaluated for breast cancer subtypes stratified by estrogen receptor (ER) and progesterone receptor (PR) status. Case-control analysis showed a significant relation between heterozygous genotypes of rs700519 and rs2069522 and breast cancer risk (OR = 0.723, 95% CI = 0.541–0.965, p = 0.028 and OR = 1.500, 95% CI = 1.078–2.087, p = 0.016, respectively). Subgroup comparisons revealed that rs2446405 and rs17268974 were related to ER status, and rs130021 was associated with PR status. Our findings suggest that rs700519 and rs2069522 are associated with susceptibility to breast cancer among the Han Chinese population and have a cumulative effect with three other identified SNPs. Further genetic and functional studies are needed to identify additional SNPs, and to elucidate the underlying molecular mechanisms.
Keywords: estrogen; polymorphisms; breast cancer estrogen; polymorphisms; breast cancer

Share and Cite

MDPI and ACS Style

Sun, M.-Y.; Du, H.-Y.; Zhu, A.-N.; Liang, H.-Y.; De Garibay, G.R.; Li, F.-X.; Li, M.; Yang, X.-X. Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women. Int. J. Mol. Sci. 2015, 16, 4121-4135. https://doi.org/10.3390/ijms16024121

AMA Style

Sun M-Y, Du H-Y, Zhu A-N, Liang H-Y, De Garibay GR, Li F-X, Li M, Yang X-X. Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women. International Journal of Molecular Sciences. 2015; 16(2):4121-4135. https://doi.org/10.3390/ijms16024121

Chicago/Turabian Style

Sun, Min-Ying, Hong-Yan Du, An-Na Zhu, Hui-Ying Liang, Gorka Ruiz De Garibay, Fen-Xia Li, Ming Li, and Xue-Xi Yang. 2015. "Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women" International Journal of Molecular Sciences 16, no. 2: 4121-4135. https://doi.org/10.3390/ijms16024121

APA Style

Sun, M.-Y., Du, H.-Y., Zhu, A.-N., Liang, H.-Y., De Garibay, G. R., Li, F.-X., Li, M., & Yang, X.-X. (2015). Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women. International Journal of Molecular Sciences, 16(2), 4121-4135. https://doi.org/10.3390/ijms16024121

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