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World J Gastroenterol. Jun 21, 2006; 12(23): 3628-3635
Published online Jun 21, 2006. doi: 10.3748/wjg.v12.i23.3628
Genetics of inflammatory bowel disease: The role of the HLA complex
Tariq Ahmad, Sara E Marshall, Derek Jewell
Tariq Ahmad, Derek Jewell, Gastroenterology Unit, University of Oxford, Gibson Laboratories, Radcliffe Infirmary, Woodstock Road, Oxford, United Kingdom
Sara E Marshall, Department of Immunology, Wright-Fleming Institute, Imperial College, London, United Kingdom
Correspondence to: Tariq Ahmad, Gastroenterology Unit, University of Oxford, Gibson Laboratories, Radcliffe Infirmary, Woodstock Road, Oxford, United Kingdom. tariqahmad@doctors.org.uk
Telephone: +44-18-65224938 Fax: +44-18-65790792
Received: March 19, 2006
Revised: March 28, 2006
Accepted: April 16, 2006
Published online: June 21, 2006
Abstract

The human leucocyte antigen (HLA) complex on chromosome 6p21.3 is the most extensively studied genetic region in Inflammatory bowel disease (IBD). Consistent evidence of linkage to IBD3 (6p21.1-23), an area which encompasses the HLA complex, has been demonstrated for both Crohn’s disease and ulcerative colitis, and a number of replicated associations with disease susceptibility and phenotype have recently emerged. However, despite these efforts the HLA susceptibility gene (s) for IBD remain elusive, a consequence of strong linkage disequilibrium, extensive polymorphism and high gene density across this region. This article reviews current knowledge of the role of HLA complex genes in IBD susceptibility and phenotype, and discusses the factors currently limiting the translation of this knowledge to clinical practice.

Keywords: Inflammatory bowel disease; Human leucocyte antigen complex; Crohn's disease; Ulcerative colitis; Genetics