Genetic variants in the IL12B gene are associated with inflammatory bowel diseases in the Korean population

Chang Mo Moon, Dong Jik Shin, Nak Hoon Son, Eun Soon Shin, Sung Pil Hong, Tae Il Kim, Won Ho Kim, JaeHee Cheon

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Background and Aim: Recent genomic studies have identified genetic variants in the IL12B gene, which encodes the p40 subunit shared by interleukin 12 and interleukin 23, as susceptibility loci for inflammatory bowel disease (IBD). The study aimed to identify additional novel genetic variants in IL12B and investigated whether variants confer susceptibility to the development of Crohn's disease (CD) or ulcerative colitis (UC) in the Korean population. Methods: To detect single nucleotide polymorphisms (SNPs) in IL12B, direct sequencing of all coding exons, exon-intron boundaries, promoter region, and 5′ untranslated region was performed in 24 randomly selected samples. Selected haplotype-tagging SNPs were subsequently genotyped in 493 IBD patients (245 patients with CD and 248 with UC) and 504 healthy controls. Results: Two haplotype-tagging SNPs (rs2288831 and rs919766) were selected through direct sequencing and were genotyped. Of them, SNP rs2288831 in the IL12B gene was significantly associated with CD susceptibility in allelic association analysis (odds ratio=1.30; 95% confidence interval 1.04-1.62; P=0.019). This significant association with CD was also observed for a haplotype consisting of SNP rs919766 and rs2288831 (odds ratio=1.29; 95% confidence interval 1.03-1.60; P=0.025). However, none of IL12B SNPs were associated with UC susceptibility. Finally, no specific associations between genetic variants and disease phenotype of CD were identified. Conclusions: This study is first to identify SNP rs2288831 in the IL12B gene as a susceptible variation for CD. Further studies in other ethnic groups are warranted to validate the association of this genetic variant with IBD.

Original languageEnglish
Pages (from-to)1588-1594
Number of pages7
JournalJournal of Gastroenterology and Hepatology (Australia)
Volume28
Issue number10
DOIs
Publication statusPublished - 2013 Jan 1

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Inflammatory Bowel Diseases
Single Nucleotide Polymorphism
Crohn Disease
Population
Genes
Ulcerative Colitis
Haplotypes
Exons
Odds Ratio
Interleukin-12 Subunit p40
Confidence Intervals
Inborn Genetic Diseases
5' Untranslated Regions
Disease Susceptibility
Ethnic Groups
Genetic Promoter Regions
Introns
Phenotype

All Science Journal Classification (ASJC) codes

  • Hepatology
  • Gastroenterology

Cite this

Moon, Chang Mo ; Shin, Dong Jik ; Son, Nak Hoon ; Shin, Eun Soon ; Hong, Sung Pil ; Kim, Tae Il ; Kim, Won Ho ; Cheon, JaeHee. / Genetic variants in the IL12B gene are associated with inflammatory bowel diseases in the Korean population. In: Journal of Gastroenterology and Hepatology (Australia). 2013 ; Vol. 28, No. 10. pp. 1588-1594.
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abstract = "Background and Aim: Recent genomic studies have identified genetic variants in the IL12B gene, which encodes the p40 subunit shared by interleukin 12 and interleukin 23, as susceptibility loci for inflammatory bowel disease (IBD). The study aimed to identify additional novel genetic variants in IL12B and investigated whether variants confer susceptibility to the development of Crohn's disease (CD) or ulcerative colitis (UC) in the Korean population. Methods: To detect single nucleotide polymorphisms (SNPs) in IL12B, direct sequencing of all coding exons, exon-intron boundaries, promoter region, and 5′ untranslated region was performed in 24 randomly selected samples. Selected haplotype-tagging SNPs were subsequently genotyped in 493 IBD patients (245 patients with CD and 248 with UC) and 504 healthy controls. Results: Two haplotype-tagging SNPs (rs2288831 and rs919766) were selected through direct sequencing and were genotyped. Of them, SNP rs2288831 in the IL12B gene was significantly associated with CD susceptibility in allelic association analysis (odds ratio=1.30; 95{\%} confidence interval 1.04-1.62; P=0.019). This significant association with CD was also observed for a haplotype consisting of SNP rs919766 and rs2288831 (odds ratio=1.29; 95{\%} confidence interval 1.03-1.60; P=0.025). However, none of IL12B SNPs were associated with UC susceptibility. Finally, no specific associations between genetic variants and disease phenotype of CD were identified. Conclusions: This study is first to identify SNP rs2288831 in the IL12B gene as a susceptible variation for CD. Further studies in other ethnic groups are warranted to validate the association of this genetic variant with IBD.",
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Genetic variants in the IL12B gene are associated with inflammatory bowel diseases in the Korean population. / Moon, Chang Mo; Shin, Dong Jik; Son, Nak Hoon; Shin, Eun Soon; Hong, Sung Pil; Kim, Tae Il; Kim, Won Ho; Cheon, JaeHee.

In: Journal of Gastroenterology and Hepatology (Australia), Vol. 28, No. 10, 01.01.2013, p. 1588-1594.

Research output: Contribution to journalArticle

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T1 - Genetic variants in the IL12B gene are associated with inflammatory bowel diseases in the Korean population

AU - Moon, Chang Mo

AU - Shin, Dong Jik

AU - Son, Nak Hoon

AU - Shin, Eun Soon

AU - Hong, Sung Pil

AU - Kim, Tae Il

AU - Kim, Won Ho

AU - Cheon, JaeHee

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N2 - Background and Aim: Recent genomic studies have identified genetic variants in the IL12B gene, which encodes the p40 subunit shared by interleukin 12 and interleukin 23, as susceptibility loci for inflammatory bowel disease (IBD). The study aimed to identify additional novel genetic variants in IL12B and investigated whether variants confer susceptibility to the development of Crohn's disease (CD) or ulcerative colitis (UC) in the Korean population. Methods: To detect single nucleotide polymorphisms (SNPs) in IL12B, direct sequencing of all coding exons, exon-intron boundaries, promoter region, and 5′ untranslated region was performed in 24 randomly selected samples. Selected haplotype-tagging SNPs were subsequently genotyped in 493 IBD patients (245 patients with CD and 248 with UC) and 504 healthy controls. Results: Two haplotype-tagging SNPs (rs2288831 and rs919766) were selected through direct sequencing and were genotyped. Of them, SNP rs2288831 in the IL12B gene was significantly associated with CD susceptibility in allelic association analysis (odds ratio=1.30; 95% confidence interval 1.04-1.62; P=0.019). This significant association with CD was also observed for a haplotype consisting of SNP rs919766 and rs2288831 (odds ratio=1.29; 95% confidence interval 1.03-1.60; P=0.025). However, none of IL12B SNPs were associated with UC susceptibility. Finally, no specific associations between genetic variants and disease phenotype of CD were identified. Conclusions: This study is first to identify SNP rs2288831 in the IL12B gene as a susceptible variation for CD. Further studies in other ethnic groups are warranted to validate the association of this genetic variant with IBD.

AB - Background and Aim: Recent genomic studies have identified genetic variants in the IL12B gene, which encodes the p40 subunit shared by interleukin 12 and interleukin 23, as susceptibility loci for inflammatory bowel disease (IBD). The study aimed to identify additional novel genetic variants in IL12B and investigated whether variants confer susceptibility to the development of Crohn's disease (CD) or ulcerative colitis (UC) in the Korean population. Methods: To detect single nucleotide polymorphisms (SNPs) in IL12B, direct sequencing of all coding exons, exon-intron boundaries, promoter region, and 5′ untranslated region was performed in 24 randomly selected samples. Selected haplotype-tagging SNPs were subsequently genotyped in 493 IBD patients (245 patients with CD and 248 with UC) and 504 healthy controls. Results: Two haplotype-tagging SNPs (rs2288831 and rs919766) were selected through direct sequencing and were genotyped. Of them, SNP rs2288831 in the IL12B gene was significantly associated with CD susceptibility in allelic association analysis (odds ratio=1.30; 95% confidence interval 1.04-1.62; P=0.019). This significant association with CD was also observed for a haplotype consisting of SNP rs919766 and rs2288831 (odds ratio=1.29; 95% confidence interval 1.03-1.60; P=0.025). However, none of IL12B SNPs were associated with UC susceptibility. Finally, no specific associations between genetic variants and disease phenotype of CD were identified. Conclusions: This study is first to identify SNP rs2288831 in the IL12B gene as a susceptible variation for CD. Further studies in other ethnic groups are warranted to validate the association of this genetic variant with IBD.

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