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World J Gastroenterol. Dec 21, 2014; 20(47): 17693-17698
Published online Dec 21, 2014. doi: 10.3748/wjg.v20.i47.17693
Genetic polymorphism in pathogenesis of irritable bowel syndrome
Cynthia KY Cheung, Justin CY Wu
Cynthia KY Cheung, Justin CY Wu, Institute of Digestive Disease, The Chinese University of Hong Kong, Hong Kong, China
Author contributions: Cheung CKY and Wu JCY equally contributed to this paper.
Correspondence to: Justin CY Wu, Professor, Institute of Digestive Disease, The Chinese University of Hong Kong, 9/F, Clinical Science Building, Prince of Wales Hospital, Shatin, Hong Kong, China. justinwu@cuhk.edu.hk
Telephone: +852-26323593 Fax: +852-26373852
Received: June 24, 2014
Revised: September 22, 2014
Accepted: December 1, 2014
Published online: December 21, 2014
Processing time: 179 Days and 2.2 Hours
Abstract

Irritable bowel syndrome (IBS) is a complex symptom-based disorder without established biomarkers or putative pathophysiology. IBS is a common functional gastrointestinal disorder which is defined as recurrent abdominal pain or discomfort that has at least two of the following symptoms for 3 d per month in the past 3 mo according to ROME III: relief by defecation, onset associated with a change in stool frequency or onset with change in appearance or form of stool. Recent discoveries revealed genetic polymorphisms in specific cytokines and neuropeptides may possibly influence the frequencies and severity of symptoms, as well as the therapeutic responses in treating IBS patients. This review gives new insights on how genetic determinations influence in clinical manifestations, treatment responses and potential biomarkers of IBS.

Keywords: Irritable bowel syndrome; Genetic polymorphism; Cytokines; Serotonin; Psychiatric distress; Endocannabinoids

Core tip: Irritable bowel syndrome (IBS) is a complex symptom-based disorder without established biomarkers or putative pathophysiology. This review gives new insights on how genetic determinations influence in clinical manifestations, treatment responses and potential biomarkers of IBS. Although a number of IBS- related genes have been identified, the majority of the identified genes required further validation as each of them may only contribute to the pathophysiology in 1%-5% in patients with functional gastrointestinal disorders.