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Int. J. Mol. Sci. 2014, 15(2), 2130-2141; doi:10.3390/ijms15022130

Risk-Association of Five SNPs in TOX3/LOC643714 with Breast Cancer in Southern China

1 The First Clinical College, Southern Medical University, Guangzhou 510515, China 2 Breast Center Nanfang Hospital, Southern Medical University, Guangzhou 510515, China 3 School of Biotechnology, Southern Medical University, Guangzhou 510515, China These authors contributed equally to this work.
* Author to whom correspondence should be addressed.
Received: 24 November 2013 / Revised: 16 January 2014 / Accepted: 21 January 2014 / Published: 29 January 2014
(This article belongs to the Special Issue Molecular Bases of Cancer Research)
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The specific mechanism by which low-risk genetic variants confer breast cancer risk is currently unclear, with contradictory evidence on the role of single nucleotide polymorphisms (SNPs) in TOX3/LOC643714 as a breast cancer susceptibility locus. Investigations of this locus using a Chinese population may indicate whether the findings initially identified in a European population are generalizable to other populations, and may provide new insight into the role of genetic variants in the etiology of breast cancer. In this case-control study, 623 Chinese female breast cancer patients and 620 cancer-free controls were recruited to investigate the role of five SNPs in TOX3/LOC643714 (rs8051542, rs12443621, rs3803662, rs4784227, and rs3112612); Linkage disequilibrium (LD) pattern analysis was performed. Additionally, we evaluated how these common SNPs influence the risk of specific types of breast cancer, as defined by estrogen receptor (ER) status, progesterone receptor (PR) status and human epidermal growth factor receptor 2 (HER2) status. Significant associations with breast cancer risk were observed for rs4784227 and rs8051542 with odds ratios (OR) of 1.31 ((95% confidence intervals (CI), 1.10–1.57)) and 1.26 (95% CI, 1.02–1.56), respectively, per T allele. The T-rs8051542 allele was significantly associated with ER-positive and HER2-negative carriers. No significant association existed between rs12443621, rs3803662, and rs3112612 polymorphisms and risk of breast cancer. Our results support the hypothesis that the applicability of a common susceptibility locus must be confirmed among genetically different populations, which may together explain an appreciable fraction of the genetic etiology of breast cancer.
Keywords: breast cancer; TOX3/LOC643714; single nucleotide polymorphism (SNP); susceptibility breast cancer; TOX3/LOC643714; single nucleotide polymorphism (SNP); susceptibility
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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He, X.; Yao, G.; Li, F.; Li, M.; Yang, X. Risk-Association of Five SNPs in TOX3/LOC643714 with Breast Cancer in Southern China. Int. J. Mol. Sci. 2014, 15, 2130-2141.

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