Association of signal transducer and activator of transcription 4 genetic variants with extra-intestinal manifestations in inflammatory bowel disease.
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.
Moon
Chang Mo
CM
Department of Internal Medicine and Institute of Gastroenterology, Yonsei University College of Medicine, Seoul, Republic of Korea.
Cheon
Jae Hee
JH
Kim
Seung Won
SW
Shin
Dong-Jik
DJ
Kim
Eun Soo
ES
Shin
Eun-Soon
ES
Kang
Yoon
Y
Park
Jae Jun
JJ
Hong
Sung Pil
SP
Nam
Su Youn
SY
Kim
Tae Il
TI
Kim
Won Ho
WH
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
D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human