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Association of signal transducer and activator of transcription 4 genetic variants with extra-intestinal manifestations in inflammatory bowel disease

 Chang Mo Moon  ;  Jae Hee Cheon  ;  Seung Won Kim  ;  Dong-Jik Shin  ;  Eun Soo Kim  ;  Eun-Soon Shin  ;  Yoon Kang  ;  Jae Jun Park  ;  Sung Pil Hong  ;  Su Youn Nam  ;  Tae Il Kim  ;  Won Ho Kim 
 LIFE SCIENCES, Vol.86(17-18) : 661-667, 2010 
Journal Title
Issue Date
Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group/genetics ; Case-Control Studies ; Child ; Colitis, Ulcerative/genetics* ; Crohn Disease/genetics* ; Female ; Genetic Predisposition to Disease* ; Humans ; Korea ; Male ; Middle Aged ; Polymorphism, Single Nucleotide* ; STAT4 Transcription Factor/genetics* ; Young Adult
Crohn's disease ; Inflammatory bowel disease ; Polymorphism ; Signal transducer and activator of transcription 4 ; Ulcerative colitis
AIMS: The STAT4 gene encodes a transcription factor which plays an important role in the development of inflammation of many immune-mediated diseases. We investigated the relationship between STAT4 single nucleotide polymorphisms (SNPs) and susceptibility to ulcerative colitis (UC) and Crohn's disease (CD) and disease phenotypes in the Korean population.

MAIN METHODS: We performed a case-control association study in individuals with UC (N=246), CD (N=182), and healthy controls (N=229).

KEY FINDINGS: We genotyped 8 STAT4 SNPs (rs11889341, rs7574865, rs8179673, rs6752770, rs925847, rs10168266, rs10181656, and rs11685878) in the STAT4 gene in patients and controls. SNP rs925847 in the STAT4 gene was significantly associated with susceptibility to UC (P=0.025; OR=0.63) in dominant genotype analysis, though none of these SNPs were associated with CD susceptibility. Moreover, a significant association was identified between SNP rs11889341 and joint involvement (P=0.040; OR=3.79), and between SNP rs925847 and eye involvement (P=0.030; OR=2.42) in UC patients. For CD, rs925847 genetic variant was associated with joint (P=0.029; OR=3.93) and perianal lesions (P=0.033; OR=2.27).

SIGNIFICANCE: Our data demonstrated that the STAT4 genetic variants could predispose an individual to IBD and its extra-intestinal ailments in Koreans, suggesting the common pathogenesis of IBD (especially, extra-intestinal manifestations) and other autoimmune diseases
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Others (기타) > 1. Journal Papers
Yonsei Authors
Kang, Yoon(강윤)
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, Eun Soo(김은수)
Kim, Tae Il(김태일) ORCID logo https://orcid.org/0000-0003-4807-890X
Moon, Chang Mo(문창모)
Park, Jae Jun(박재준)
Cheon, Jae Hee(천재희) ORCID logo https://orcid.org/0000-0002-2282-8904
Hong, Sung Pil(홍성필)
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