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The IL-6 gene maps to an area of chromosome 7 known to be significant for susceptibility to inflammatory bowel disease. The functional effects of interleukin-6 (IL-6) polymorphisms in the 4th intron and in the 3' flanking region of IL-6 gene were studied in 192 inflammatory bowel disease patients and healthy subjects. A polymerase chain reaction with sequence-specific primers (PCR-SSP) was used to determine a G to A polymorphism (* at position 4470 in intron 4 of IL-6 gene). Four alleles in the 3' flanking region were studied using a variable number of tandem repeats PCR (VNTR-PCR) amplification. Production of IL-6 was measured in lipopolysaccharide (LPS) stimulated whole blood samples by an enzyme-linked immunosorbent assay (ELISA). A modest increase in the frequency of the IL-6*G allele was noted in Crohn's disease (CD) patients (50%) and ulcerative colitis (UC) patients (46.1%) as compared to controls (39.8%, P = 0.025). We were unable to find any significant functional effect of the IL-6 polymorphisms tested on IL-6 protein production. We postulate that the IL-6 polymorphisms investigated here may be in linkage disequilibrium with a susceptibility gene and that they may be utilised as genetic markers.

Original publication

DOI

10.1038/sj.gene.6363658

Type

Journal article

Journal

Genes Immun

Publication Date

02/2000

Volume

1

Pages

207 - 212

Keywords

Adolescent, Adult, Aged, Alleles, Base Sequence, Case-Control Studies, Colitis, Ulcerative, Crohn Disease, DNA Primers, Female, Gene Frequency, Humans, Interleukin-10, Interleukin-6, Male, Middle Aged, Polymorphism, Genetic, Tumor Necrosis Factor-alpha