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

Authors
 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 
Citation
 Inflammatory Bowel Diseases, Vol.19(1) : 106-114, 2013 
Journal Title
 Inflammatory Bowel Diseases 
ISSN
 1078-0998 
Issue Date
2013
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.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/86321
Full Text
http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=00054725-201301000-00015&LSLINK=80&D=ovft
DOI
10.1002/ibd.22972
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Biomedical Systems Informatics (의생명시스템정보학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실)
Yonsei Authors
김승원(Kim, Seung Won)
김원호(Kim, Won Ho)
김태일(Kim, Tae Il)
박보람(Park, Bo Ram)
손낙훈(Son, Nak Hoon)
정은석(Jung, Eun Suk)
천재희(Cheon, Jae Hee)
홍성필(Hong, Sung Pil)
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