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• Sun, M
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• Ye, C
• Xu, W
• Yao, G
• Chen, J
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• Ye, C
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Int. J. Mol. Sci. 2012, 13(4), 4896-4905; doi:10.3390/ijms13044896

Article

Risk-Association of CYP11A1 Polymorphisms and Breast Cancer Among Han Chinese Women in Southern China

Minying Sun ^1,† , Xuexi Yang ^1,† , Changsheng Ye ² , Weiwen Xu ¹ , Guangyu Yao ² , Jun Chen ²  and Ming Li ^1,3,*

¹ School of Biotechnology, Southern Medical University, Guangzhou 510515, China ² Breast Center, Nanfang hospital, Southern Medical University, Guangzhou 510515, China ³ Da An Gene Co., Ltd. of Sun Yat-sen University, Guangzhou 510665, China ^† These authors contributed equally to this work.

* Author to whom correspondence should be addressed.

Received: 13 January 2012; in revised form: 20 March 2012 / Accepted: 26 March 2012 / Published: 18 April 2012

(This article belongs to the Section Biochemistry, Molecular Biology and Biophysics)

Download PDF Full-Text [183 KB, uploaded 18 April 2012 14:12 CEST]

Abstract: Exposure to endogenous sex hormones has been reported as a risk factor for breast cancer. The CYP11A1 gene encodes the key enzyme that catalyzes the initial and rate-limiting step in steroid hormone synthesis. In this study, the associations between single nucleotide polymorphisms (SNPs) in CYP11A1 and breast cancer susceptibility were examined. Six SNPs in CYP11A1 were genotyped using the MassARRAY IPLEX platform in 530 breast cancer patients and 546 healthy controls. Association analyses based on a χ² test and binary logistic regression were performed to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Two loci (rs2959008 and rs2279357) showed evidence of associations with breast cancer risk. The variant genotype C/T-C/C of rs2959008 was significantly associated with a decreased risk (age-adjusted OR, 0.75; 95% CI, 0.58–0.96; P = 0.023) compared with the wild-type TT. However, the homozygous TT variant of rs2279357 exhibited increased susceptibility to breast cancer (age-adjusted OR, 1.44; 95% CI, 1.05–1.98; P = 0.022). The locus rs2959003 also showed an appreciable effect, but no associations were observed for three other SNPs. Our results suggest that polymorphisms of CYP11A1 are related to breast cancer susceptibility in Han Chinese women of South China.

Keywords: CYP11A1; breast cancer; single nucleotide polymorphism (SNP); susceptibility

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