Although genetic predisposition for inflammatory bowel disease (IBD) is wel
l established, little is known about the accountable genes. The pathogenesi
s of IBD is characterized by an imbalanced activation of Th-1- and Th-2-lym
phocytes. IL-10 represents an anti-inflammatory cytokine which downregulate
s the production of Tilt-derived cytokines. To evaluate the role of the IL-
10 gene in IBD, two polymorphisms in the promoter region (G/A at position -
1082 and C/A at position -592) were genotyped in 142 patients with Crohn's
disease (CD), 104 patients with ulcerative colitis (UC), and 400 healthy co
ntrols. Significant differences were not apparent, neither in the allele fr
equencies of either polymorphism, nor in the haplotype frequencies. Screeni
ng of the coding region of the IL-10 gene by polymerase chain reaction - si
ngle strand conformation polymorphism (PCR-SSCP) analysis revealed a rare s
equence variation in exon 1 leading to an amino acid exchange (G -->A; G15R
) in two patients with CD and five healthy controls. Therefore, polymorphis
ms of the IL-10 gene are not demonstrably involved in the predisposition of
IBD in our cohorts of patients.