Abstract A40: Multiple locations on 8q24 and 6p21-22 and rare variants associated with gastric cancer susceptibility in a Korean population

To efficiently identify genetic susceptibility variants for gastric cancer, including rare coding variants, we performed an exome chip-based array study in 329 gastric cancer cases and 683 controls. We found that a linkage disequilibrium (LD) block containing 2 significant variants in PSCA gene increased the risk and two blocks that included 15 suggested variants including TRIM31, TRIM 40, TRIM 10, and TRIM26 regions, and included one suggested variant and OR2H2 gene showed protective associations with gastric cancer susceptibility. In addition, the PLEC region (rs200893203), FBLN2 region (rs201192415), and EPHA2 region (rs3754334) were associated with increased susceptibility (allele-specific odds ratios (OR)=12.65, 95% confidence interval (CI)=2.82–56.69, P=2.0×10-5; OR=7.40, 95% CI=2.43 – 22.58, P=3.8×10-5; OR=6.49, 95% CI=2.34–18.01, P=4.1×10-5, respectively). Among them, rs200893203 and rs201192415 were classified as rare variants with a minor allele frequency Citation Format: Jeongseon Kim, Boyoung Park, Jeonghee Lee, Young Ae Cho, Hae Dong Woo, Seung Hwa Jeong, Il Ju Choi, Young Woo Kim, Young Woo Kim, Young Woo Kim. Multiple locations on 8q24 and 6p21-22 and rare variants associated with gastric cancer susceptibility in a Korean population. [abstract]. In: Proceedings of the Thirteenth Annual AACR International Conference on Frontiers in Cancer Prevention Research; 2014 Sep 27-Oct 1; New Orleans, LA. Philadelphia (PA): AACR; Can Prev Res 2015;8(10 Suppl): Abstract nr A40.