Characteristics of Japanese inflammatory bowel disease susceptibility loci

Yoshiaki Arimura, Hiroyuki Isshiki, Kei Onodera, Kanna Nagaishi, Kentaro Yamashita, Tomoko Sonoda, Takayuki Matsumoto, Atsushi Takahashi, Masakazu Takazoe, Keiko Yamazaki, Michiaki Kubo, Mineko Fujimiya, Kohzoh Imai, Yasuhisa Shinomura

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Background: There are substantial differences in inflammatory bowel disease (IBD) genetics depending on the populations examined. We aimed to identify Japanese population-specific or true culprit susceptibility genes through a meta-analysis of past genetic studies of Japanese IBD. Methods: For this study, we reviewed 2,703 articles. The review process consisted of three screening stages: we initially searched for relevant studies and then relevant single nucleotide polymorphisms (SNPs). Finally, we adjusted them for the meta-analysis. To maximize our chances of analysis, we introduced proxy SNPs during the first stage. To minimize publication bias, no significant SNPs and solitary SNPs without pairs were combined to be reconsidered during the third stage. Additionally, two SNPs were newly genotyped. Finally, we conducted a meta-analysis of 37 published studies in 50 SNPs located at 22 loci corresponding to the total number of 4,853 Crohn's disease (CD), 5,612 ulcerative colitis (UC) patients, and 14,239 healthy controls. Results: We confirmed that the NKX2-3 polymorphism is associated with common susceptibility to IBD and that HLA-DRB1*0450 alleles increase susceptibility to CD but reduce risk for UC while HLA-DRB1*1502 alleles increase susceptibility to UC but reduce CD risk. Moreover, we found individual disease risk loci: TNFSF15 and TNFα to CD and HLA-B*5201, and NFKBIL1 to UC. The genetic risk of HLA was substantially high (odds ratios ranged from 1.54 to 2.69) while that of common susceptibility loci to IBD was modest (odds ratio ranged from 1.13 to 1.24). Conclusions: Results indicate that Japanese IBD susceptibility loci identified by the meta-analysis are closely associated with the HLA regions.

Original languageEnglish
Pages (from-to)1217-1230
Number of pages14
JournalJournal of Gastroenterology
Volume49
Issue number8
DOIs
Publication statusPublished - 01-01-2014
Externally publishedYes

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Disease Susceptibility
Inflammatory Bowel Diseases
Single Nucleotide Polymorphism
Ulcerative Colitis
Crohn Disease
Meta-Analysis
HLA-DRB1 Chains
Alleles
Odds Ratio
Publication Bias
Proxy
Population
Genes

All Science Journal Classification (ASJC) codes

  • Gastroenterology

Cite this

Arimura, Y., Isshiki, H., Onodera, K., Nagaishi, K., Yamashita, K., Sonoda, T., ... Shinomura, Y. (2014). Characteristics of Japanese inflammatory bowel disease susceptibility loci. Journal of Gastroenterology, 49(8), 1217-1230. https://doi.org/10.1007/s00535-013-0866-2
Arimura, Yoshiaki ; Isshiki, Hiroyuki ; Onodera, Kei ; Nagaishi, Kanna ; Yamashita, Kentaro ; Sonoda, Tomoko ; Matsumoto, Takayuki ; Takahashi, Atsushi ; Takazoe, Masakazu ; Yamazaki, Keiko ; Kubo, Michiaki ; Fujimiya, Mineko ; Imai, Kohzoh ; Shinomura, Yasuhisa. / Characteristics of Japanese inflammatory bowel disease susceptibility loci. In: Journal of Gastroenterology. 2014 ; Vol. 49, No. 8. pp. 1217-1230.
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Arimura, Y, Isshiki, H, Onodera, K, Nagaishi, K, Yamashita, K, Sonoda, T, Matsumoto, T, Takahashi, A, Takazoe, M, Yamazaki, K, Kubo, M, Fujimiya, M, Imai, K & Shinomura, Y 2014, 'Characteristics of Japanese inflammatory bowel disease susceptibility loci', Journal of Gastroenterology, vol. 49, no. 8, pp. 1217-1230. https://doi.org/10.1007/s00535-013-0866-2

Characteristics of Japanese inflammatory bowel disease susceptibility loci. / Arimura, Yoshiaki; Isshiki, Hiroyuki; Onodera, Kei; Nagaishi, Kanna; Yamashita, Kentaro; Sonoda, Tomoko; Matsumoto, Takayuki; Takahashi, Atsushi; Takazoe, Masakazu; Yamazaki, Keiko; Kubo, Michiaki; Fujimiya, Mineko; Imai, Kohzoh; Shinomura, Yasuhisa.

In: Journal of Gastroenterology, Vol. 49, No. 8, 01.01.2014, p. 1217-1230.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Characteristics of Japanese inflammatory bowel disease susceptibility loci

AU - Arimura, Yoshiaki

AU - Isshiki, Hiroyuki

AU - Onodera, Kei

AU - Nagaishi, Kanna

AU - Yamashita, Kentaro

AU - Sonoda, Tomoko

AU - Matsumoto, Takayuki

AU - Takahashi, Atsushi

AU - Takazoe, Masakazu

AU - Yamazaki, Keiko

AU - Kubo, Michiaki

AU - Fujimiya, Mineko

AU - Imai, Kohzoh

AU - Shinomura, Yasuhisa

PY - 2014/1/1

Y1 - 2014/1/1

N2 - Background: There are substantial differences in inflammatory bowel disease (IBD) genetics depending on the populations examined. We aimed to identify Japanese population-specific or true culprit susceptibility genes through a meta-analysis of past genetic studies of Japanese IBD. Methods: For this study, we reviewed 2,703 articles. The review process consisted of three screening stages: we initially searched for relevant studies and then relevant single nucleotide polymorphisms (SNPs). Finally, we adjusted them for the meta-analysis. To maximize our chances of analysis, we introduced proxy SNPs during the first stage. To minimize publication bias, no significant SNPs and solitary SNPs without pairs were combined to be reconsidered during the third stage. Additionally, two SNPs were newly genotyped. Finally, we conducted a meta-analysis of 37 published studies in 50 SNPs located at 22 loci corresponding to the total number of 4,853 Crohn's disease (CD), 5,612 ulcerative colitis (UC) patients, and 14,239 healthy controls. Results: We confirmed that the NKX2-3 polymorphism is associated with common susceptibility to IBD and that HLA-DRB1*0450 alleles increase susceptibility to CD but reduce risk for UC while HLA-DRB1*1502 alleles increase susceptibility to UC but reduce CD risk. Moreover, we found individual disease risk loci: TNFSF15 and TNFα to CD and HLA-B*5201, and NFKBIL1 to UC. The genetic risk of HLA was substantially high (odds ratios ranged from 1.54 to 2.69) while that of common susceptibility loci to IBD was modest (odds ratio ranged from 1.13 to 1.24). Conclusions: Results indicate that Japanese IBD susceptibility loci identified by the meta-analysis are closely associated with the HLA regions.

AB - Background: There are substantial differences in inflammatory bowel disease (IBD) genetics depending on the populations examined. We aimed to identify Japanese population-specific or true culprit susceptibility genes through a meta-analysis of past genetic studies of Japanese IBD. Methods: For this study, we reviewed 2,703 articles. The review process consisted of three screening stages: we initially searched for relevant studies and then relevant single nucleotide polymorphisms (SNPs). Finally, we adjusted them for the meta-analysis. To maximize our chances of analysis, we introduced proxy SNPs during the first stage. To minimize publication bias, no significant SNPs and solitary SNPs without pairs were combined to be reconsidered during the third stage. Additionally, two SNPs were newly genotyped. Finally, we conducted a meta-analysis of 37 published studies in 50 SNPs located at 22 loci corresponding to the total number of 4,853 Crohn's disease (CD), 5,612 ulcerative colitis (UC) patients, and 14,239 healthy controls. Results: We confirmed that the NKX2-3 polymorphism is associated with common susceptibility to IBD and that HLA-DRB1*0450 alleles increase susceptibility to CD but reduce risk for UC while HLA-DRB1*1502 alleles increase susceptibility to UC but reduce CD risk. Moreover, we found individual disease risk loci: TNFSF15 and TNFα to CD and HLA-B*5201, and NFKBIL1 to UC. The genetic risk of HLA was substantially high (odds ratios ranged from 1.54 to 2.69) while that of common susceptibility loci to IBD was modest (odds ratio ranged from 1.13 to 1.24). Conclusions: Results indicate that Japanese IBD susceptibility loci identified by the meta-analysis are closely associated with the HLA regions.

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Arimura Y, Isshiki H, Onodera K, Nagaishi K, Yamashita K, Sonoda T et al. Characteristics of Japanese inflammatory bowel disease susceptibility loci. Journal of Gastroenterology. 2014 Jan 1;49(8):1217-1230. https://doi.org/10.1007/s00535-013-0866-2