机构：[1]Department of Statistics and Epidemiology, Guangzhou Key Laboratory of Environmental Pollution and Health Risk Assessment, The School of Public Health, Sun Yat-sen University, Guangzhou, China[2]Division of Epidemiology, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee[3]The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China中山大学附属第一医院[4]The Second Affiliated Hospital, Sun Yat-sen University, Guangzhou, China[5]The Sun Yat-sen University Cancer Center, Guangzhou, China中山大学肿瘤防治中心[6]The Third Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
Allelic expression imbalance (AEI) has been applied to indicate potential function of genetic variants. Combining earlier results from global differential allele-specific expression analysis and genome wide association studies (GWASs), we select the single nuclear polymorphisms (SNPs) exhibiting AEI phenomenon located in breast cancer susceptibility chromosome regions, and evaluate their associations with breast cancer risk and survival. We examined the genotypes of 10 AEI SNPs in 1551 incident breast cancer cases and 1605 age-frequency matched controls from Guangzhou, China. In total, 1168 cases were followed up. MUC16 rs2591592 (AT/AA vs. TT) was associated with an increased risk of premenopausal breast cancer (OR [95%CI]: 1.30 [1.07, 1.57]); SLAMF1 rs1061217 (CT/TT vs. CC) decreased the risk of breast cancer among overweight women (OR [95%CI]: 0.74 [0.57, 0.96]) but increased the risk among normal-weight women (OR [95%CI]: 1.15 [1.01, 1.39]); ZNF331 rs8109631 (AG/AA vs. GG) and CHRAC1 rs10216653 (GC/GG vs. CC) were associated with progression free survival among breast cancer patients with negative ER/PR status and higher clinical stage (HRs [95%CIs]: 2.39 [1.14, 5.00], 1.85 [1.03, 3.32], and 0.49 [0.30, 0.80], respectively). ZNF331 rs8109631 and CHRAC1 rs10216653 were further found to represent several functional SNPs through bioinformatic analysis. In conclusion, our findings demonstrated suggestive associations of AEI polymorphisms with breast cancer risk (MUC16 rs2591592 and SLAMF1 rs1061217) and prognosis (ZNF331 rs8109631 and CHRAC1 rs10216653). (c) 2016 Wiley Periodicals, Inc.
基金：
National Natural Science Foundation of China [81273147]; NSFC-NIH [81261120394]
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2017]版：
大类|2 区医学
小类|2 区生化与分子生物学2 区肿瘤学
最新[2023]版：
大类|2 区医学
小类|2 区生化与分子生物学3 区肿瘤学
第一作者：
第一作者机构：[1]Department of Statistics and Epidemiology, Guangzhou Key Laboratory of Environmental Pollution and Health Risk Assessment, The School of Public Health, Sun Yat-sen University, Guangzhou, China
共同第一作者：
通讯作者：
通讯机构：[1]Department of Statistics and Epidemiology, Guangzhou Key Laboratory of Environmental Pollution and Health Risk Assessment, The School of Public Health, Sun Yat-sen University, Guangzhou, China[*1]School of Public Health, Sun Yat-sen University, 74 Zhongshan 2nd Rd, Guangzhou, 510080, China.
推荐引用方式(GB/T 7714)：
Wei Lin ,Hong-Da Lin ,Xing-Yi Guo ,et al.Allelic expression imbalance polymorphisms in susceptibility chromosome regions and the risk and survival of breast cancer[J].MOLECULAR CARCINOGENESIS.2017,56(1):300-311.doi:10.1002/mc.22493.
APA：
Wei Lin,,Hong-Da Lin,,Xing-Yi Guo,,Ying Lin,,Feng-Xi Su,...&Ze-Fang Ren.(2017).Allelic expression imbalance polymorphisms in susceptibility chromosome regions and the risk and survival of breast cancer.MOLECULAR CARCINOGENESIS,56,(1)
MLA：
Wei Lin,,et al."Allelic expression imbalance polymorphisms in susceptibility chromosome regions and the risk and survival of breast cancer".MOLECULAR CARCINOGENESIS 56..1(2017):300-311
