Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients

Keiko Yamazaki, Yoshihiro Onouchi, Masakazu Takazoe, Michiaki Kubo, Yusuke Nakamura, Akira Hata

Research output: Contribution to journalArticle

166 Citations (Scopus)

Abstract

Inflammatory bowel diseases, Crohn's disease (CD) and ulcerative colitis are characterised by chronic transmural, segmental and typically granulomatous inflammation of the gut. Each has a peak age of onset in the second to fourth decades of life and prevalence has been increasing significantly in both Western countries and Japan over the last decade, while their pathogenesis remains largely unknown. Recently, positive association of CD with the variants in interleukin 23 receptor (IL23R), autophagy-related 16-like 1 (ATG16L1) genes and chromosome 5p13.1 locus was reported through genome-wide association studies which are now recognised as a robust tool for the identification of susceptibility genes for complex diseases. To examine an association of reported susceptible variants in the three loci with Japanese CD patients, a total of 484 CD patients and 439 controls were genotyped. No evidence of positive association for any of these loci with CD was found in the Japanese population, even after clinically stratified subgroups of CD were used. Our result revealed a distinct ethnic difference of genetic background of CD that we reported previously in other genes between Japanese and Caucasian populations. Further genetic studies are required to confirm our findings with ethnically divergent populations.

Original languageEnglish
Pages (from-to)575-583
Number of pages9
JournalJournal of Human Genetics
Volume52
Issue number7
DOIs
Publication statusPublished - 01-06-2007

Fingerprint

Interleukin Receptors
Interleukin-23
Autophagy
Crohn Disease
Population
Genes
Chromosomes, Human, Pair 1
Genome-Wide Association Study
Ulcerative Colitis
Inflammatory Bowel Diseases
Age of Onset
Japan
Inflammation

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Yamazaki, Keiko ; Onouchi, Yoshihiro ; Takazoe, Masakazu ; Kubo, Michiaki ; Nakamura, Yusuke ; Hata, Akira. / Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. In: Journal of Human Genetics. 2007 ; Vol. 52, No. 7. pp. 575-583.
@article{386651fba0b249fcaf7c01fc6bd25e05,
title = "Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients",
abstract = "Inflammatory bowel diseases, Crohn's disease (CD) and ulcerative colitis are characterised by chronic transmural, segmental and typically granulomatous inflammation of the gut. Each has a peak age of onset in the second to fourth decades of life and prevalence has been increasing significantly in both Western countries and Japan over the last decade, while their pathogenesis remains largely unknown. Recently, positive association of CD with the variants in interleukin 23 receptor (IL23R), autophagy-related 16-like 1 (ATG16L1) genes and chromosome 5p13.1 locus was reported through genome-wide association studies which are now recognised as a robust tool for the identification of susceptibility genes for complex diseases. To examine an association of reported susceptible variants in the three loci with Japanese CD patients, a total of 484 CD patients and 439 controls were genotyped. No evidence of positive association for any of these loci with CD was found in the Japanese population, even after clinically stratified subgroups of CD were used. Our result revealed a distinct ethnic difference of genetic background of CD that we reported previously in other genes between Japanese and Caucasian populations. Further genetic studies are required to confirm our findings with ethnically divergent populations.",
author = "Keiko Yamazaki and Yoshihiro Onouchi and Masakazu Takazoe and Michiaki Kubo and Yusuke Nakamura and Akira Hata",
year = "2007",
month = "6",
day = "1",
doi = "10.1007/s10038-007-0156-z",
language = "English",
volume = "52",
pages = "575--583",
journal = "Journal of Human Genetics",
issn = "1434-5161",
publisher = "Nature Publishing Group",
number = "7",

}

Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. / Yamazaki, Keiko; Onouchi, Yoshihiro; Takazoe, Masakazu; Kubo, Michiaki; Nakamura, Yusuke; Hata, Akira.

In: Journal of Human Genetics, Vol. 52, No. 7, 01.06.2007, p. 575-583.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Association analysis of genetic variants in IL23R, ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients

AU - Yamazaki, Keiko

AU - Onouchi, Yoshihiro

AU - Takazoe, Masakazu

AU - Kubo, Michiaki

AU - Nakamura, Yusuke

AU - Hata, Akira

PY - 2007/6/1

Y1 - 2007/6/1

N2 - Inflammatory bowel diseases, Crohn's disease (CD) and ulcerative colitis are characterised by chronic transmural, segmental and typically granulomatous inflammation of the gut. Each has a peak age of onset in the second to fourth decades of life and prevalence has been increasing significantly in both Western countries and Japan over the last decade, while their pathogenesis remains largely unknown. Recently, positive association of CD with the variants in interleukin 23 receptor (IL23R), autophagy-related 16-like 1 (ATG16L1) genes and chromosome 5p13.1 locus was reported through genome-wide association studies which are now recognised as a robust tool for the identification of susceptibility genes for complex diseases. To examine an association of reported susceptible variants in the three loci with Japanese CD patients, a total of 484 CD patients and 439 controls were genotyped. No evidence of positive association for any of these loci with CD was found in the Japanese population, even after clinically stratified subgroups of CD were used. Our result revealed a distinct ethnic difference of genetic background of CD that we reported previously in other genes between Japanese and Caucasian populations. Further genetic studies are required to confirm our findings with ethnically divergent populations.

AB - Inflammatory bowel diseases, Crohn's disease (CD) and ulcerative colitis are characterised by chronic transmural, segmental and typically granulomatous inflammation of the gut. Each has a peak age of onset in the second to fourth decades of life and prevalence has been increasing significantly in both Western countries and Japan over the last decade, while their pathogenesis remains largely unknown. Recently, positive association of CD with the variants in interleukin 23 receptor (IL23R), autophagy-related 16-like 1 (ATG16L1) genes and chromosome 5p13.1 locus was reported through genome-wide association studies which are now recognised as a robust tool for the identification of susceptibility genes for complex diseases. To examine an association of reported susceptible variants in the three loci with Japanese CD patients, a total of 484 CD patients and 439 controls were genotyped. No evidence of positive association for any of these loci with CD was found in the Japanese population, even after clinically stratified subgroups of CD were used. Our result revealed a distinct ethnic difference of genetic background of CD that we reported previously in other genes between Japanese and Caucasian populations. Further genetic studies are required to confirm our findings with ethnically divergent populations.

UR - http://www.scopus.com/inward/record.url?scp=34347357508&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34347357508&partnerID=8YFLogxK

U2 - 10.1007/s10038-007-0156-z

DO - 10.1007/s10038-007-0156-z

M3 - Article

C2 - 17534574

AN - SCOPUS:34347357508

VL - 52

SP - 575

EP - 583

JO - Journal of Human Genetics

JF - Journal of Human Genetics

SN - 1434-5161

IS - 7

ER -