J Cancer 2017; 8(7):1162-1169. doi:10.7150/jca.18055

Research Paper

Association between SNPs in Long Non-coding RNAs and the Risk of Female Breast Cancer in a Chinese Population

Tao Xu1*, Xiu-Xiu Hu1, 2*, Xiang-Xiang Liu1, Han-Jin Wang3, Kang Lin1, Yu-Qin Pan1, Hui-Ling Sun1, Hong-Xin Peng1, 2, Xiao-Xiang Chen1, 2, Shu-Kui Wang1✉, Bang-Shun He1✉

1. General Clinical Research Center, Nanjing First Hospital, Nanjing Medical University, Nanjing, China;
2. Medical college, Southeast University, Nanjing, China;
3. Department of General Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
* These authors contributed equally to this work.


Long non-coding RNAs (LncRNAs) have been reported to be involved in tumorigenesis and tumor progression. Single nucleotide polymorphisms (SNPs) in the lncRNAs also play a vital role in carcinogenesis. The aim of this study was to assess the relationships between the four selected tagSNPs (rs944289, rs3787016, rs1456315, rs7463708) in the lncRNAs and the risk of female breast cancer in a Chinese population. A case-control study was carried out involving in a total of 439 breast cancer patients and 439 age-matched healthy controls. The genotyping was performed with Sequenom MassARRAY and the expression of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor-2 (HER-2) in tumor tissues was measured by the immunohistochemistry (IHC) assay. We found that rs3787016 TT genotype (adjusted odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.09-2.41, P = 0.018) was associated with an increased risk of female breast cancer, especially among the patients with premenopausal status (adjusted OR = 2.55, 95% CI = 1.30-4.97, P = 0.006). Moreover, a statistically significant increased risk of the rs3787016 TT genotype was observed among the patients with advanced tumor stage (Ⅲ and Ⅳ), poor histological grade (G3-G4), positive lymph node involvement, positive expression of ER and PR and negative expression of HER-2; rs7463708 GT and GT/GG genotype were associated with decreased risk of breast cancer in the subgroup of patients with postmenopausal status (GT versus (vs.) TT: adjusted OR = 0.67, 95% CI = 0.46-0.99, P = 0.043; GT/GG vs. TT: adjusted OR = 0.68, 95% CI = 0.47-0.98, P = 0.041) and tumor late-stage (GT vs. TT: adjusted OR = 0.65, 95% CI = 0.43-0.97, P = 0.037; GT/GG vs. TT: adjusted OR = 0.65, 95% CI = 0.44-0.96, P = 0.029). In short, rs3787016 TT genotype was associated with increased breast cancer risk and clinicopathologic features of the tumor, especially among premenopausal women.

Keywords: Breast cancer, LncRNAs, SNPs

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How to cite this article:
Xu T, Hu XX, Liu XX, Wang HJ, Lin K, Pan YQ, Sun HL, Peng HX, Chen XX, Wang SK, He BS. Association between SNPs in Long Non-coding RNAs and the Risk of Female Breast Cancer in a Chinese Population. J Cancer 2017; 8(7):1162-1169. doi:10.7150/jca.18055. Available from http://www.jcancer.org/v08p1162.htm