title: Allelic expression imbalance polymorphisms in susceptibility chromosome regions and the risk and survival of breast cancer.
abstract: 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). © 2016 Wiley Periodicals, Inc.
authors.affiliation: 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.
authors.forename: Wei
authors.initials: W
authors.lastname: Lin
authors.affiliation: 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.
authors.forename: Hong-Da
authors.initials: HD
authors.lastname: Lin
authors.affiliation: Division of Epidemiology, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee.
authors.forename: Xing-Yi
authors.initials: XY
authors.lastname: Guo
authors.affiliation: The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Lin
authors.affiliation: The Second Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
authors.forename: Feng-Xi
authors.initials: FX
authors.lastname: Su
authors.affiliation: The Sun Yat-sen University Cancer Center, Guangzhou, China.
authors.forename: Wei-Hua
authors.initials: WH
authors.lastname: Jia
authors.affiliation: The Third Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
authors.forename: Lu-Ying
authors.initials: LY
authors.lastname: Tang
authors.affiliation: Division of Epidemiology, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee.
authors.forename: Wei
authors.initials: W
authors.lastname: Zheng
authors.affiliation: Division of Epidemiology, Department of Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee.
authors.forename: Ji-Rong
authors.initials: JR
authors.lastname: Long
authors.affiliation: 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.
authors.forename: Ze-Fang
authors.initials: ZF
authors.lastname: Ren
mesh_terms: D000328:Adult; D000483:Alleles; D001943:Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis
keywords: allelic expression imbalance; breast cancer; risk; survival; susceptibility chromosome region