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

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 populati...

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Main Authors:	He, Xuanqiu, Yao, Guangyu, Li, Fenxia, Li, Ming, Yang, Xuexi
Format:	Online
Language:	English
Published:	Molecular Diversity Preservation International (MDPI) 2014
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3958841/

id	pubmed-3958841
recordtype	oai_dc
spelling	pubmed-39588412014-03-20 Risk-Association of Five SNPs in TOX3/LOC643714 with Breast Cancer in Southern China He, Xuanqiu Yao, Guangyu Li, Fenxia Li, Ming Yang, Xuexi Article 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. Molecular Diversity Preservation International (MDPI) 2014-01-29 /pmc/articles/PMC3958841/ /pubmed/24481062 http://dx.doi.org/10.3390/ijms15022130 Text en © 2014 by the authors; licensee MDPI, Basel, Switzerland http://creativecommons.org/licenses/by/3.0/ This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	He, Xuanqiu Yao, Guangyu Li, Fenxia Li, Ming Yang, Xuexi
spellingShingle	He, Xuanqiu Yao, Guangyu Li, Fenxia Li, Ming Yang, Xuexi Risk-Association of Five SNPs in TOX3/LOC643714 with Breast Cancer in Southern China
author_facet	He, Xuanqiu Yao, Guangyu Li, Fenxia Li, Ming Yang, Xuexi
author_sort	He, Xuanqiu
title	Risk-Association of Five SNPs in TOX3/LOC643714 with Breast Cancer in Southern China
title_short	Risk-Association of Five SNPs in TOX3/LOC643714 with Breast Cancer in Southern China
title_full	Risk-Association of Five SNPs in TOX3/LOC643714 with Breast Cancer in Southern China
title_fullStr	Risk-Association of Five SNPs in TOX3/LOC643714 with Breast Cancer in Southern China
title_full_unstemmed	Risk-Association of Five SNPs in TOX3/LOC643714 with Breast Cancer in Southern China
title_sort	risk-association of five snps in tox3/loc643714 with breast cancer in southern china
description	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.
publisher	Molecular Diversity Preservation International (MDPI)
publishDate	2014
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3958841/
_version_	1612069145391661056

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

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