Abstract LB-175: Genome-wide scan of the effect of cis-eSNPs on gastric cancer in Chinese population

Abstract

Abstract Background: Previous genome-wide association studies (GWASs) have identified multiple single-nucleotide polymorphisms (SNPs) for gastric cancer risk. However, only a tiny fraction of heritability can be explained. Methods: We performed a comprehensive analysis to evaluate the associations between cis-expression quantitative trait SNPs (eSNPs) and susceptibility to gastric cancer in two GWAS datasets, including 2,631 gastric cancer cases and 4,373 controls. Gene-based and pathway analysis were conducted by the sequence kernel association test (SKAT-C) and the adaptive rank truncated product (ARTP) method, respectively. Results: A total of 314,518 eSNPs were remained after quality control, which mapped to 5,155 genes and 1,077 pathways. We identified six novel eQTL SNPs in unknown loci which can explain approximately 3.56% of the phenotypic variances combined with known GWAS related variants. Function analysis revealed that rs3129206 might affect the susceptibility of gastric cancer via regulating the expression of HSD17B8, while rs6930376 regulating the expression of PSORS1C3. Pathway-based analysis showed a total of seven potential pathways might account for the risk of gastric cancer (Pfdr<0.1). Conclusion: Our findings demonstrate an overview of the associations between eSNPs and gastric cancer risk in Chinese population, which provide insight into genes and pathways that may be biologically relevant for risk of gastric cancer. Citation Format: Jing Ni, Jing Han, Meng Zhu, Guangfu Jin, Zhibin Hu. Genome-wide scan of the effect of cis-eSNPs on gastric cancer in Chinese population [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr LB-175.