Abstract 2204: Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations reveals new susceptibility loci

Abstract We conducted a joint (pooled) analysis of three genome-wide association studies (GWAS) of esophageal squamous cell carcinoma (ESCC) in ethnic Chinese (5,337 ESCC cases and 5,787 controls) with 9,654 ESCC cases and 10,058 controls for follow-up. In a logistic regression model adjusted for age, sex, study, and two eigenvectors, two new loci achieved genome-wide significance, marked by rs7447927 at 5q31.2 (per-allele odds ratio (OR) = 0.85, 95% Confidence Interval (CI) = 0.82-0.88; P = 7.72x10-20) and rs1642764 at 17p13.1 (per-allele OR = 0.88, 95% CI = 0.85-0.91; P = 3.10x10-13). rs7447927 is a synonymous single nucleotide polymorphism (SNP) in TMEM173 and rs1642764 is an intronic SNP in ATP1B2, near TP53. Furthermore, a locus in the HLA class II region at 6p21.32 (rs35597309) achieved genome-wide significance in the two populations at highest risk for ESSC (per-allele OR = 1.33, 95% CI = 1.22-1.46; P = 1.99x10-10). Our joint analysis revealed new ESCC susceptibility loci overall as well as a new locus unique to the ESCC high risk Taihang Mountain region. Citation Format: Chen Wu, Zhaoming Wang, Xin Song, Xiao-Shan Feng, Christian C. Abnet, Jie He, Nan Hu, Xian-Bo Zuo, Wen Tan, Xue-Jun Zhang, Neal D. Freedman, Alisa M. Goldstein, Dongxin Lin, Philip R. Taylor, Li-Dong Wang, Stephen J. Chanock. Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations reveals new susceptibility loci. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 2204. doi:10.1158/1538-7445.AM2014-2204