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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, Jae Hee 
 INFLAMMATORY BOWEL DISEASES, Vol.19(1) : 106-114, 2013 
Journal Title
Issue Date
Adolescent ; Adult ; Asian Continental Ancestry Group/genetics* ; Case-Control Studies ; Colitis, Ulcerative/epidemiology ; Colitis, Ulcerative/genetics* ; Crohn Disease/epidemiology ; Crohn Disease/genetics* ; Ethnic Groups/genetics ; Female ; Follow-Up Studies ; GTP-Binding Proteins/genetics* ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease/genetics* ; Humans ; Male ; Polymorphism, Single Nucleotide/genetics* ; Prognosis ; Republic of Korea/epidemiology ; Young Adult
IRGM ; polymorphism ; inflammatory bowel disease ; ulcerative colitis ; Crohn's disease
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.
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1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Biomedical Systems Informatics (의생명시스템정보학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Won(김승원) ORCID logo https://orcid.org/0000-0002-1692-1192
Kim, Won Ho(김원호) ORCID logo https://orcid.org/0000-0002-5682-9972
Kim, Tae Il(김태일) ORCID logo https://orcid.org/0000-0003-4807-890X
Park, Bo Ram(박보람)
Son, Nak Hoon(손낙훈)
Jung, Eun Suk(정은석)
Cheon, Jae Hee(천재희) ORCID logo https://orcid.org/0000-0002-2282-8904
Hong, Sung Pil(홍성필)
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