title: The serotonin transporter polymorphism rs25531 is associated with irritable bowel syndrome.
abstract: Irritable bowel syndrome is a frequent gastrointestinal disorder of unknown etiology. The serotonin transporter regulates the intensity and duration of serotonin signaling in the gut and is, therefore, an attractive candidate gene for irritable bowel syndrome. Previous studies investigating the 5-HTTLPR and Stin2 VNTR polymorphisms of the serotonin transporter have proved inconclusive. In this exploratory study we therefore expanded the search for a possible association of the serotonin transporter with irritable bowel syndrome to include not only the 5-HTTLPR and Stin2 VNTR length polymorphisms, but also the functional single nucleotide polymorphism rs25531. We genotyped 186 patients with irritable bowel syndrome and 50 healthy control subjects raging in age from 18 to 70 years. Carriers of the rare G allele of rs25531 had approximately threefold increased odds of irritable bowel syndrome compared with healthy controls (OR 3.3, 95% CI 1.1-9.6). Our findings suggest that further investigation of the possible role of the serotonin transporter in the etiology of IBS is warranted.
authors.affiliation: Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195-6560, USA. ruko@u.washington.edu
authors.forename: Ruth
authors.initials: R
authors.lastname: Kohen
authors.forename: Monica E
authors.initials: ME
authors.lastname: Jarrett
authors.forename: Kevin C
authors.initials: KC
authors.lastname: Cain
authors.forename: Sang-Eun
authors.initials: SE
authors.lastname: Jun
authors.forename: Grace P
authors.initials: GP
authors.lastname: Navaja
authors.forename: Sarah
authors.initials: S
authors.lastname: Symonds
authors.forename: Margaret M
authors.initials: MM
authors.lastname: Heitkemper
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D043183:Irritable Bowel Syndrome / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D012307:Risk Factors; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*; D014861:Washington
chemical_list: C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins