title: Association of signal transducer and activator of transcription 4 genetic variants with extra-intestinal manifestations in inflammatory bowel disease.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  We performed a case-control association study in individuals with UC (N=246), CD (N=182), and healthy controls (N=229).
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul, Republic of Korea.
authors.forename: Chang Mo
authors.initials: CM
authors.lastname: Moon
authors.forename: Jae Hee
authors.initials: JH
authors.lastname: Cheon
authors.forename: Seung Won
authors.initials: SW
authors.lastname: Kim
authors.forename: Dong-Jik
authors.initials: DJ
authors.lastname: Shin
authors.forename: Eun Soo
authors.initials: ES
authors.lastname: Kim
authors.forename: Eun-Soon
authors.initials: ES
authors.lastname: Shin
authors.forename: Yoon
authors.initials: Y
authors.lastname: Kang
authors.forename: Jae Jun
authors.initials: JJ
authors.lastname: Park
authors.forename: Sung Pil
authors.initials: SP
authors.lastname: Hong
authors.forename: Su Youn
authors.initials: SY
authors.lastname: Nam
authors.forename: Tae Il
authors.initials: TI
authors.lastname: Kim
authors.forename: Won Ho
authors.initials: WH
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D003093:Colitis, Ulcerative / Q000235:genetics*; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D050797:STAT4 Transcription Factor / Q000235:genetics*; D055815:Young Adult
chemical_list: D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human