title: Genetic determination of irritable bowel syndrome.
abstract: Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. According to the Rome III criteria, IBS is defined as recurrent abdominal pain or discomfort for at least 3 d per month during the previous 3 mo associated with two or more of the following symptoms: improvement with defecation, onset associated with a change in the frequency of stool and/or onset associated with a change in form or appearance of stool. There is growing evidence regarding the genetic contribution in IBS, however the precise etiology of IBS is still unknown. The evaluation of the genetic influence is based on twin studies, familial aggregation and genetic epidemiological investigations. Most studies showed a concordance for IBS significantly greater in monozygotic than in dizygotic twins. The majority of the studies have shown that familial aggregation may represent exposures to a similar environment, as well as the influence of genetic factors. Whereas no specific gene has been identified in association with IBS, recent studies have noticed the importance of polymorphisms in the promoter region of the serotonin reuptake transporter gene, G-protein beta 3 subunit gene (C825T), cholecystokinin receptor (CCKAR gene 779T>C), and high-producer tumor necrosis factor genotype. Further studies are necessary to determine how genetic factors influence the clinical manifestations and therapeutical response in IBS patients.
authors.affiliation: 2nd Medical Department, University of Medicine and Pharmacy Iuliu Hatiegau, Str Clinicilor 4, Cluj-Napoca 400 006, Romania.
authors.forename: Cristina
authors.initials: C
authors.lastname: Hotoleanu
authors.forename: Radu
authors.initials: R
authors.lastname: Popp
authors.forename: Adrian-Pavel
authors.initials: AP
authors.lastname: Trifa
authors.forename: Laurentiu
authors.initials: L
authors.lastname: Nedelcu
authors.forename: Dan-L
authors.initials: DL
authors.lastname: Dumitrascu
mesh_terms: D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics; D006801:Humans; D043183:Irritable Bowel Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011949:Receptors, Cholecystokinin / Q000235:genetics; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics; D018433:Twin Studies as Topic
chemical_list: C454420:G-protein beta3 subunit; D011949:Receptors, Cholecystokinin; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D014409:Tumor Necrosis Factor-alpha; D020962:Heterotrimeric GTP-Binding Proteins