¹Abteilung fuer Molekulare Humangenetik, Ruhr-Universitaet, Bochum, Germany

²Abteilung fuer Gastroenterologie, Universitaetsklinik Bergmannsheil, Bochum, Germany

³Medizinische Klinik, Klinikum Innenstadt, Ludwig-Maximilians Universitaet Muenchen, Germany

⁴Klinik fuer Innere Medizin I, Friedrich-Schiller Universitaet, Jena, Germany

Correspondence to: W Klein, Abteilung fuer Molekulare Humangenetik, Universitaetsstrasse 150, 44801 Bochum, Germany. E-mail: wolfram.klein@ruhr-uni-bochum.de

Inflammatory bowel diseases (IBD) are multifactorial disorders characterised by the host's inability to limit the inflammatory response to luminal antigens. The association of polymorphisms in the CARD15 gene with Crohn's disease (CD) demonstrates the relevance of activated transcription factor NFB in mononuclear cells. Interleukin 11 (IL11) mediates anti-inflammatory effects and is able to downregulate LPS-induced NFB activation. The IL11 gene is therefore a good candidate involved in genetic predisposition to IBD. To evaluate the role of the IL11 gene in IBD, two polymorphisms, including a dinucleotide repeat in the promoter region, have been genotyped in 222 patients with CD, 152 patients with ulcerative colitis (UC) and 400 healthy controls. PCR-SSCP analysis of the coding region revealed a single polymorphism in exon 4 leading to an amino acid exchange (G335A; R112H), not significantly associated with either disease. Dinucleotide repeat frequencies of the IL11.A1 allele and of IL11.A1 homozygous individuals were significantly increased among the patients with UC (P<0.002 and (P<0.003, respectively) but not with CD. Altered expression of IL11 appears to be involved in the genetic predisposition of UC.

Genes and Immunity (2002) 3, 494-496. doi:10.1038/sj.gene.6363897

ulcerative colitis; Crohn's disease; interleukin 11; SSCP analyses; polymorphism; association study