Inflammatory bowel disease genetics and pharmacogenetics: An overview

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2007 (EN)
Inflammatory bowel disease genetics and pharmacogenetics: An overview (EN)

Telakis, E.

In the last decade significant advances in the field of IBD genetics have taken place and various putative loci of genetic susceptibility to IBD have been identified. Since the discovery in 2001 of the only confirmed Crohn's disease susceptibility gene (CARD15/NOD2), various other genes have been extensively investigated with conflicting results. Apart from a risk haplotype in chromosome 5 no other widely confirmed associations with IBD have been discovered. Pharmacogenetics is the study of the relation between genetic variability and variability in drug response or toxicity. Pharmacogenetic studies examined the role of gene variations in the treatment of IBD patients with sulphasalazine, mesalazine, methotrexate, thiopourines, corticosteroids and infliximab but the only discovery partially translated into clinical use is the relation between TPMT gene polymorphisms and hematological toxicity of thiopourines. At present the application of genetic testing in routine clinical practice for the diagnosis and treatment of IBD seems premature and cannot be recommended. Perhaps in the future a panel of genetic markers will be put into clinical use in order to predict the diseases's course, complications and response to therapy. Key Words: ulcerative colitis, Crohn's disease, inflammatory bowel disease, genetics, pharmacogenetics, susceptibility genes. (EN)




Hellenic Society of Gastroenterology (EN)

Annals of Gastroenterology; Volume 20, No 3 (2007) (EN)

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