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Int. J. Mol. Sci. 2015, 16(2), 4121-4135;

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

Guangzhou Center for Disease Control and Prevention, Guangzhou 510440, China
School of Biotechnology, Southern Medical University, Guangzhou 510515, China
Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research, Barcelona 08908, Spain
These authors contributed equally to this work.
Authors to whom correspondence should be addressed.
Academic Editor: Camile S. Farah
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)
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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. View Full-Text
Keywords: estrogen; polymorphisms; breast cancer estrogen; polymorphisms; breast cancer
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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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.

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