Premium
Colorectal cancer‐susceptibility single‐nucleotide polymorphisms in K orean population
Author(s) -
Hong Sung Noh,
Park Changho,
Kim Jongil,
Kim DukHwan,
Kim Hee Cheol,
Chang Dong Kyung,
Rhee PoongLyul,
Kim Jae J.,
Rhee Jong Chul,
Son Hee Jung,
Kim YoungHo
Publication year - 2015
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/jgh.12331
Subject(s) - single nucleotide polymorphism , odds ratio , snp , colorectal cancer , genome wide association study , medicine , genetic predisposition , genetics , population , confidence interval , genetic model , oncology , genotype , biology , cancer , gene , disease , environmental health
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.