Genetics and irritable bowel syndrome: from genomics to intermediate phenotype and pharmacogenetics.

ABSTRACT:

Purpose

Familial aggregation and sibling pair studies suggest there is a genetic contribution to the development of irritable bowel syndrome (IBS). The aim of this study was to review the evidence of genetics in IBS based on genetic epidemiology, studies of association with intermediate phenotypes and pharmacogenetics.

Results

Genetic association studies with IBS symptom phenotype have generally provided inconsistent results for many candidate genes investigated, such as SLC6A4, GNB3, and IL-10. There have been no genome-wide association studies in IBS to date. Studies of associations of candidate genes with intermediate phenotypes suggest associations with pathophysiological mechanisms of motor and sensory functions; however, these results also require replication. Pharmaco

SUBMITTER: Camilleri M 

PROVIDER: S-EPMC2903621 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature