Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the korean population

Chang Mo Moon, Dong Jik Shin, Seung Won Kim, Nak Hoon Son, Ahram Park, Boram Park, Eun Suk Jung, Eun Soo Kim, Sung Pil Hong, Tae Il Kim, Won Ho Kim, JaeHee Cheon

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

Background: Recent European ancestry genome-wide association studies have identified genetic variants of IRGM as significant susceptibility loci for Crohn's disease (CD). Therefore, we investigated whether genetic variants of IRGM confer genetic susceptibility to CD or ulcerative colitis (UC) and evaluated the genotype-phenotype associations in the Korean population. Methods: This study included 510 inflammatory bowel disease (IBD) patients (253 patients with CD and 257 with UC) and 520 healthy controls in Koreans. Initially, we performed direct sequencing analysis to identify unique IRGM single nucleotide polymorphisms (SNPs). Three selected haplotype-tagging SNPs and one risk locus (rs72553867, rs10065172, rs4958847, and rs12654043) within the IRGM were then geno-typed in patients and controls. Results: IRGM SNP rs10065172 was significantly associated with CD susceptibility in terms of allelic frequency (P = 0.004; odds ratio [OR] = 1.42) and genotype frequency (dominant model, P = 0.008; OR = 1.62). We also found a relationship between SNP rs72553867 and CD susceptibility in the analysis of allelic frequency (P = 0.0117; OR = 0.67) and genotype frequency (dominant model, P = 0.002; OR = 0.55). In addition, we observed that the association of CD with rs10065172 became stronger in patients with younger age at diagnosis (≤20 years) or male gender. However, there was no significant association between the four SNPs and UC susceptibility. Conclusions: This is the first study to identify SNP rs10065172 and rs72553867 in IRGM as principal CD susceptibility loci in an Asian population.

Original languageEnglish
Pages (from-to)106-114
Number of pages9
JournalInflammatory Bowel Diseases
Volume19
Issue number1
DOIs
Publication statusPublished - 2013 Jan 1

Fingerprint

Inflammatory Bowel Diseases
Crohn Disease
Single Nucleotide Polymorphism
Disease Susceptibility
Population
Genes
Odds Ratio
Ulcerative Colitis
Genotype
Genome-Wide Association Study
Genetic Association Studies
Genetic Predisposition to Disease
Haplotypes

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Gastroenterology

Cite this

Moon, Chang Mo ; Shin, Dong Jik ; Kim, Seung Won ; Son, Nak Hoon ; Park, Ahram ; Park, Boram ; Jung, Eun Suk ; Kim, Eun Soo ; Hong, Sung Pil ; Kim, Tae Il ; Kim, Won Ho ; Cheon, JaeHee. / Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the korean population. In: Inflammatory Bowel Diseases. 2013 ; Vol. 19, No. 1. pp. 106-114.
@article{1dee4e68b89047768c11681203e2b51c,
title = "Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the korean population",
abstract = "Background: Recent European ancestry genome-wide association studies have identified genetic variants of IRGM as significant susceptibility loci for Crohn's disease (CD). Therefore, we investigated whether genetic variants of IRGM confer genetic susceptibility to CD or ulcerative colitis (UC) and evaluated the genotype-phenotype associations in the Korean population. Methods: This study included 510 inflammatory bowel disease (IBD) patients (253 patients with CD and 257 with UC) and 520 healthy controls in Koreans. Initially, we performed direct sequencing analysis to identify unique IRGM single nucleotide polymorphisms (SNPs). Three selected haplotype-tagging SNPs and one risk locus (rs72553867, rs10065172, rs4958847, and rs12654043) within the IRGM were then geno-typed in patients and controls. Results: IRGM SNP rs10065172 was significantly associated with CD susceptibility in terms of allelic frequency (P = 0.004; odds ratio [OR] = 1.42) and genotype frequency (dominant model, P = 0.008; OR = 1.62). We also found a relationship between SNP rs72553867 and CD susceptibility in the analysis of allelic frequency (P = 0.0117; OR = 0.67) and genotype frequency (dominant model, P = 0.002; OR = 0.55). In addition, we observed that the association of CD with rs10065172 became stronger in patients with younger age at diagnosis (≤20 years) or male gender. However, there was no significant association between the four SNPs and UC susceptibility. Conclusions: This is the first study to identify SNP rs10065172 and rs72553867 in IRGM as principal CD susceptibility loci in an Asian population.",
author = "Moon, {Chang Mo} and Shin, {Dong Jik} and Kim, {Seung Won} and Son, {Nak Hoon} and Ahram Park and Boram Park and Jung, {Eun Suk} and Kim, {Eun Soo} and Hong, {Sung Pil} and Kim, {Tae Il} and Kim, {Won Ho} and JaeHee Cheon",
year = "2013",
month = "1",
day = "1",
doi = "10.1002/ibd.22972",
language = "English",
volume = "19",
pages = "106--114",
journal = "Inflammatory Bowel Diseases",
issn = "1078-0998",
publisher = "John Wiley and Sons Inc.",
number = "1",

}

Moon, CM, Shin, DJ, Kim, SW, Son, NH, Park, A, Park, B, Jung, ES, Kim, ES, Hong, SP, Kim, TI, Kim, WH & Cheon, J 2013, 'Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the korean population', Inflammatory Bowel Diseases, vol. 19, no. 1, pp. 106-114. https://doi.org/10.1002/ibd.22972

Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the korean population. / Moon, Chang Mo; Shin, Dong Jik; Kim, Seung Won; Son, Nak Hoon; Park, Ahram; Park, Boram; Jung, Eun Suk; Kim, Eun Soo; Hong, Sung Pil; Kim, Tae Il; Kim, Won Ho; Cheon, JaeHee.

In: Inflammatory Bowel Diseases, Vol. 19, No. 1, 01.01.2013, p. 106-114.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Associations between genetic variants in the IRGM gene and inflammatory bowel diseases in the korean population

AU - Moon, Chang Mo

AU - Shin, Dong Jik

AU - Kim, Seung Won

AU - Son, Nak Hoon

AU - Park, Ahram

AU - Park, Boram

AU - Jung, Eun Suk

AU - Kim, Eun Soo

AU - Hong, Sung Pil

AU - Kim, Tae Il

AU - Kim, Won Ho

AU - Cheon, JaeHee

PY - 2013/1/1

Y1 - 2013/1/1

N2 - Background: Recent European ancestry genome-wide association studies have identified genetic variants of IRGM as significant susceptibility loci for Crohn's disease (CD). Therefore, we investigated whether genetic variants of IRGM confer genetic susceptibility to CD or ulcerative colitis (UC) and evaluated the genotype-phenotype associations in the Korean population. Methods: This study included 510 inflammatory bowel disease (IBD) patients (253 patients with CD and 257 with UC) and 520 healthy controls in Koreans. Initially, we performed direct sequencing analysis to identify unique IRGM single nucleotide polymorphisms (SNPs). Three selected haplotype-tagging SNPs and one risk locus (rs72553867, rs10065172, rs4958847, and rs12654043) within the IRGM were then geno-typed in patients and controls. Results: IRGM SNP rs10065172 was significantly associated with CD susceptibility in terms of allelic frequency (P = 0.004; odds ratio [OR] = 1.42) and genotype frequency (dominant model, P = 0.008; OR = 1.62). We also found a relationship between SNP rs72553867 and CD susceptibility in the analysis of allelic frequency (P = 0.0117; OR = 0.67) and genotype frequency (dominant model, P = 0.002; OR = 0.55). In addition, we observed that the association of CD with rs10065172 became stronger in patients with younger age at diagnosis (≤20 years) or male gender. However, there was no significant association between the four SNPs and UC susceptibility. Conclusions: This is the first study to identify SNP rs10065172 and rs72553867 in IRGM as principal CD susceptibility loci in an Asian population.

AB - Background: Recent European ancestry genome-wide association studies have identified genetic variants of IRGM as significant susceptibility loci for Crohn's disease (CD). Therefore, we investigated whether genetic variants of IRGM confer genetic susceptibility to CD or ulcerative colitis (UC) and evaluated the genotype-phenotype associations in the Korean population. Methods: This study included 510 inflammatory bowel disease (IBD) patients (253 patients with CD and 257 with UC) and 520 healthy controls in Koreans. Initially, we performed direct sequencing analysis to identify unique IRGM single nucleotide polymorphisms (SNPs). Three selected haplotype-tagging SNPs and one risk locus (rs72553867, rs10065172, rs4958847, and rs12654043) within the IRGM were then geno-typed in patients and controls. Results: IRGM SNP rs10065172 was significantly associated with CD susceptibility in terms of allelic frequency (P = 0.004; odds ratio [OR] = 1.42) and genotype frequency (dominant model, P = 0.008; OR = 1.62). We also found a relationship between SNP rs72553867 and CD susceptibility in the analysis of allelic frequency (P = 0.0117; OR = 0.67) and genotype frequency (dominant model, P = 0.002; OR = 0.55). In addition, we observed that the association of CD with rs10065172 became stronger in patients with younger age at diagnosis (≤20 years) or male gender. However, there was no significant association between the four SNPs and UC susceptibility. Conclusions: This is the first study to identify SNP rs10065172 and rs72553867 in IRGM as principal CD susceptibility loci in an Asian population.

UR - http://www.scopus.com/inward/record.url?scp=84873740366&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84873740366&partnerID=8YFLogxK

U2 - 10.1002/ibd.22972

DO - 10.1002/ibd.22972

M3 - Article

VL - 19

SP - 106

EP - 114

JO - Inflammatory Bowel Diseases

JF - Inflammatory Bowel Diseases

SN - 1078-0998

IS - 1

ER -