The genetics of inflammatory bowel disease: diagnostic and therapeutic implications

Abstract

Ultimately, the correlation between these genotypes and clinical phenotype of disease will inevitably lead to an improved understanding of disease natural history and a more tailored approach to therapy. Although there is ongoing debate as to whether these inherent differences in enzyme activity can predict responsiveness to anti-metabolite therapy, some gastroenterologists do find value in 6-MP metabolite testing as a means of monitoring patient compliance and tailoring the dose of anti-metabolite therapy based on a perceived therapeutic window. In the future, patients with IBD will ultimately be categorized based on their genomic imprint to allow for a better delineation of disease phenotype. Furthermore, the application pharmacogenomics of drug therapy into clinical practice will be pivotal in maximizing treatment response while avoiding untoward side-effects.

Pain management in patients with inflammatory bowel disease: insights for the clinician

“…There are a growing number of potential genes implicated in the etiopathogenesis and severity of IBD (e.g. NOD2 and CARD15) [Cuffari, 2010] and IBS [polymorphisms in the serotonin transporter gene (5-HTTLPR), certain G-protein coupled receptors, cholecystokinin-receptor and tumor necrosis factor (TNF)] [Hotoleanu et al 2008]. In addition, transient receptor potential vanilloid type-1 (TRPV1) has been shown to play an important role in visceral hypersensitivity.…”

Human Enterovirus Species B in Ileocecal Crohn's Disease

“…27 The high frequency of NOD2 mutations observed in our study group may reflect that patients with ICD were specifically selected and that NOD2 mutations are most strongly associated with this CD variant. 21, 22 Four patients were homozygous (GG) for the risk allele in ATG16L1 , which is associated with a more than threefold elevated risk of developing CD compared with heterozygous mutations. 28 …”

“…On the basis of the specific characteristics of ICD, the recent data showing important roles of NOD2 and ATG16L1 in immune responses against ssRNA viruses, and the fact that disease-associated polymorphisms in NOD2 are particularly common in the ICD phenotype, 21, 22 we hypothesized that ssRNA viruses with tropism both for the intestinal epithelium and the nervous system may have a role in ICD. In particular, we were interested to study the presence of human enterovirus species B (HEV-B), which belong to the Picornavirus family, in ICD.…”