Association of TNF-alpha-857C with inflammatory bowel disease in the Australian population

Background: It is now well established that susceptibility to inflammatory bowel disease is in part genetic, with one localization on chromosome 6 (IBD3) having been replicated in a number of populations. A candidate in that region, TNF-alpha, contains polymorphisms in the promoter region that appear to be associated with disease. Methods: More than 600 individuals from 170 multiplex IBD families were genotyped for four polymorphisms in the TNF-alpha gene and analysed for association. Results and Conclusion: A strong association was observed between transmission of the -857 C allele and disease. This effect was strongest in those families in which the NOD2 risk alleles are also segregating, supporting the existence of an interaction between IBD3 and IBD1 on chromosome 16.