Identification of Loci at 1q21 and 16q23 That Affect Susceptibility to Inflammatory Bowel Disease in Koreans

Gastroenterology. 2016 Dec;151(6):1096-1099.e4. doi: 10.1053/j.gastro.2016.08.025. Epub 2016 Aug 26.


Recent genome-wide association studies have identified more than 200 regions that affect susceptibility to inflammatory bowel disease (IBD). However, identified common variants account for only a fraction of IBD heritability and largely have been identified in populations of European ancestry. We performed a genome-wide association study of susceptibility loci in Korean individuals, comprising a total of 1505 IBD patients and 4041 controls. We identified 2 new susceptibility loci for IBD at genome-wide significance: rs3766920 near PYGO2-SHC1 at 1q21 and rs16953946 in CDYL2 at 16q23. In addition, we confirmed associations, in Koreans, with 28 established IBD loci (P < 2.16 × 10-4). Our findings support the complementary value of genetic studies in different populations.

Keywords: Crohn’s Disease; Genetics; Risk Factor; Ulcerative Colitis.

MeSH terms

  • Adolescent
  • Adult
  • Asian People / genetics*
  • Case-Control Studies
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 16*
  • Colitis, Ulcerative / diagnosis
  • Colitis, Ulcerative / genetics*
  • Crohn Disease / diagnosis
  • Crohn Disease / genetics*
  • Genetic Loci
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Likelihood Functions
  • Polymorphism, Single Nucleotide
  • Republic of Korea
  • Src Homology 2 Domain-Containing, Transforming Protein 1 / genetics
  • Young Adult


  • Intracellular Signaling Peptides and Proteins
  • PYGO2 protein, human
  • SHC1 protein, human
  • Src Homology 2 Domain-Containing, Transforming Protein 1