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Comparative Study
. 2016 Jul;51(7):672-81.
doi: 10.1007/s00535-015-1135-3. Epub 2015 Oct 28.

Genetic characteristics of inflammatory bowel disease in a Japanese population

Yuta Fuyuno  1   2 , Keiko Yamazaki  1 , Atsushi Takahashi  3 , Motohiro Esaki  2 , Takaaki Kawaguchi  4 , Masakazu Takazoe  4 , Takayuki Matsumoto  2 , Toshiyuki Matsui  5 , Hiroki Tanaka  6 , Satoshi Motoya  6 , Yasuo Suzuki  7 , Yutaka Kiyohara  8 , Takanari Kitazono  4 , Michiaki Kubo  9
Affiliations
Comparative Study

Genetic characteristics of inflammatory bowel disease in a Japanese population

Yuta Fuyuno et al. J Gastroenterol. 2016 Jul.

Abstract

Background: Crohn's disease (CD) and ulcerative colitis (UC) are two major forms of inflammatory bowel disease (IBD). Meta-analyses of genome-wide association studies (GWAS) have identified 163 susceptibility loci for IBD among European populations; however, there is limited information for IBD susceptibility in a Japanese population.

Methods: We performed a GWAS using imputed genotypes of 743 IBD patients (372 with CD and 371 with UC) and 3321 controls. Using 100 tag single-nucleotide polymorphisms (SNPs) (P < 5 × 10(-5)), a replication study was conducted with an independent set of 1310 IBD patients (949 with CD and 361 with UC) and 4163 controls. In addition, 163 SNPs identified by a European IBD GWAS were genotyped, and genetic backgrounds were compared between the Japanese and European populations.

Results: In the IBD GWAS, two East Asia-specific IBD susceptibility loci were identified in the Japanese population: ATG16L2-FCHSD2 and SLC25A15-ELF1-WBP4. Among 163 reported SNPs in European IBD patients, significant associations were confirmed in 18 (8 CD-specific, 4 UC-specific, and 6 IBD-shared). In Japanese CD patients, genes in the Th17-IL23 pathway showed stronger genetic effects, whereas the association of genes in the autophagy pathway was limited. The association of genes in the epithelial barrier and the Th17-IL23R pathways were similar in the Japanese and European UC populations.

Conclusions: We confirmed two IBD susceptibility loci as common for CD and UC, and East Asian-specific. The genetic architecture in UC appeared to be similar between Europeans and East Asians, but may have some differences in CD.

Keywords: Crohn’s disease; Ethnic difference; Genome-wide association study; Inflammatory bowel disease; Ulcerative colitis.

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