The G2964A polymorphism of the STAT6 gene in inflammatory bowel disease.
OBJECTIVE
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.


METHODS
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.
Klein
W
W
Department of Human Genetics, Ruhr-University, 44780 Bochum, Germany.
Tromm
A
A
Folwaczny
C
C
Hagedorn
M
M
Duerig
N
N
Epplen
J
J
Schmiegel
W
W
Griga
T
T
D000328:Adult; D003093:Colitis, Ulcerative / Q000235:genetics*; D003424:Crohn Disease / Q000235:genetics*; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D050800:STAT6 Transcription Factor; D015398:Signal Transduction / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D050800:STAT6 Transcription Factor; C494101:STAT6 protein, human; D015534:Trans-Activators