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Genetic determination of irritable bowel syndrome

World Journal of Gastroenterology 2008年第43期14卷 6636-6640页

作者： Cristina Hotoleanu Radu Popp Adrian Pavel Trifa laurentiu nedelcu Dan L Dumitrascu 2nd Medical Department University of Medicine and Pharmacy Iuliu HatieganuCluj-Napoca 400 006Romania University of Medicine and Pharmacy Iuliu Hatieganu Genetic DepartmentCluj-Napoca 400 006Romania Department of Internal medicine University Transilvania BrasovCluj-Napoca 400 006Romania

Irritable bowel syndrome （IBS） is a common functional gastrointestinal disorder. According to the Rome m 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.

关键词： Irritable bowel syndrome Genetic factors Gene polymorphisms Twin studies Familial aggregation

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