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Associations Between Genetic Variants in the IRGM Gene and Inflammatory Bowel Diseases in the Korean Population

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Author(s)
Chang Mo MoonDong-Jik ShinSeung Won KimNak-Hoon SonAhram ParkBoram ParkEun Suk JungEun Soo KimSung Pil HongTae Il KimWon Ho KimJae Hee Cheon
Keimyung Author(s)
Kim, Eun Soo
Department
Dept. of Internal Medicine (내과학)
Journal Title
Inflammatory Bowel Diseases
Issued Date
2013
Volume
19
Issue
1
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 ¼ 0.004; odds ratio [OR] ¼ 1.42)
and genotype frequency (dominant model, P ¼ 0.008; OR ¼ 1.62). We also found a relationship between SNP rs72553867 and CD susceptibility in the
analysis of allelic frequency (P ¼ 0.0117; OR ¼ 0.67) and genotype frequency (dominant model, P ¼ 0.002; OR ¼ 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.
(Inflamm Bowel Dis 2013;19:106–114)
Key Words: IRGM, polymorphism, inflammatory bowel disease, ulcerative colitis, Crohn’s disease
Keimyung Author(s)(Kor)
김은수
Publisher
School of Medicine
Citation
Chang Mo Moon et al. (2013). Associations Between Genetic Variants in the IRGM Gene and
Inflammatory Bowel Diseases in the Korean Population. Inflammatory Bowel Diseases, 19(1), 106–114. doi:  10.1002/ibd.22972
Type
Article
ISSN
1078-0998
DOI
 10.1002/ibd.22972
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/35873
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Internal Medicine (내과학)
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