Colorectal cancer‐susceptibility single‐nucleotide polymorphisms in K orean population

Background and Aim Considering the significant racial and ethnic diversity in genetic variation, it is unclear whether the genome‐wide association studies‐identified colorectal cancer ( CRC )‐susceptibility single‐nucleotide polymorphisms ( SNP s) discovered in European populations are also relevant to the K orean population. However, studies on CRC ‐susceptibility SNP s in K oreans are limited. Methods To investigate the racial and ethnic diversity of CRC ‐susceptibility genetic variants, we genotyped for the established E uropean CRC ‐susceptibility SNP s in 198 CRC cases and 329 controls in K orea. To identify novel genetic variants using genome‐wide screening in K orea, I llumina H uman H ap 370K/610K B ead C hips were performed on 105 CRC patients, and candidate CRC ‐susceptibility SNPs were selected. Subsequently, genotyping for replication was done in 189 CRC cases and 190 controls. Results Among the E uropean CRC ‐susceptibility SNPs , rs4939827 in SMAD 7 was associated with a significant decreased risk of K orean CRC (age‐/gender‐adjusted odds ratio [95% confidence interval]: additive model, 0.67 [95% CI, 0.47–0.95]; dominant model, 0.59 [95% CI, 0.39–0.91]). rs4779584 and rs10795668 were associated with CRC risk in females and males, respectively. Among candidate CRC ‐susceptibility SNP s selected from genome‐wide screening, novel SNP , rs17051076, was found to be associated with a significantly increased risk of microsatellite instability‐high CRC (age‐/gender‐adjusted odds ratio [95% confidence interval]: additive model, 4.25 [95% CI, 1.51–11.98]; dominant model, 3.52 [95% CI, 1.13–10.94]) in the replication study. Conclusions rs4939827, rs4779584, and rs10795668 may contribute to the risk of CRC in the K orean population as well as in E uropean populations. Novel rs17051076 could be associated with microsatellite instability‐high CRC in K oreans. These associations support the ethnic diversity of CRC ‐susceptibility SNP s and should be taken into account in large‐scale studies.