The G2964A polymorphism of the STAT6 gene in inflammatory bowel disease.
Dig Liver Dis
; 37(3): 159-61, 2005 Mar.
Article
in En
| MEDLINE
| ID: mdl-15888279
ABSTRACT
BACKGROUND AND AIMS:
Linkage of inflammatory bowel diseases to chromosome 12p13.2-q24.1 (IBD2) has been confirmed in several genome wide screens. The STAT6 gene is located within this chromosomal region. The transcription factor STAT6 is involved in the regulation of the TH1/TH2 immune response. Increased production of TH1 cytokines is crucial in the pathogenesis of Crohn's disease. PATIENTS ANDMETHODS:
Therefore, we genotyped a single nucleotide polymorphism in the 3' untranslated region of the STAT6 gene (G2964A) in 243 patients with Crohn's disease, 100 patients with ulcerative colitis and 548 healthy controls.RESULTS:
In comparison to controls, the G allele and the GG genotype frequencies were significantly increased only in Crohn's disease patients without a variation in the CARD15 gene (p<0.03 and p<0.02, respectively).CONCLUSIONS:
Alterations in the STAT6 pathway may play a crucial role in the pathogenesis of distinct subgroups of patients with Crohn's disease.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Signal Transduction
/
Colitis, Ulcerative
/
Crohn Disease
/
Trans-Activators
/
Polymorphism, Single Nucleotide
Type of study:
Clinical_trials
Limits:
Adult
/
Humans
/
Middle aged
Language:
En
Journal:
Dig Liver Dis
Journal subject:
GASTROENTEROLOGIA
Year:
2005
Document type:
Article
Affiliation country:
Alemania