Serotonin-transporter polymorphism pharmacogenetics in diarrhea-predominant irritable bowel syndrome

Gastroenterology. 2002 Aug;123(2):425-32. doi: 10.1053/gast.2002.34780.

Abstract

Background & aims: A serotonin (5-HT)(3) receptor antagonist relieves symptoms in women with diarrhea-predominant irritable bowel syndrome (D-IBS). 5-HT undergoes reuptake by a transporter protein (SERT). Polymorphisms in the promoter for synthesis of SERT (SERT-P) influence response to serotonergic medications in depression. Our hypothesis is that polymorphisms of the promoter region for the SERT influence colonic transit in response to treatment with alosetron in D-IBS.

Methods: Thirty patients (15 men, 15 women) with D-IBS received 1 mg twice a day alosetron for 6 weeks; colonic transit was measured by scintigraphy at baseline and at the end of treatment. Twenty-three patients consented to provide blood DNA samples. Long, short, and heterozygous SERT polymorphisms were identified by polymerase chain reaction-based restriction fragment length polymorphisms and confirmed by direct sequencing. We sought pharmacogenomic association of long, short, and heterozygote polymorphisms with a change in colonic transit and with an a priori-defined, clinically meaningful change in transit at 24 hours (>1.1 colonic regions).

Results: SERT polymorphisms tended to be associated with colonic transit response (P = 0.075); there was a greater response in those with long homozygous than heterozygous polymorphisms (P = 0.039). Slowing of transit by >1.1 colonic region was observed in 9 women and 3 men and was more frequent in long homozygous than heterozygous patients (P = 0.024). Age, gender, and duration of IBS were not significantly different in the 3 groups.

Conclusions: Genetic polymorphisms at the SERT promoter influence response to a 5-HT(3) antagonist in D-IBS and may influence benefit-risk ratio with this class of compounds.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Carbolines / pharmacology
  • Carbolines / therapeutic use
  • Carrier Proteins / genetics*
  • Colon / drug effects
  • Colon / physiology
  • Colonic Diseases, Functional / drug therapy
  • Colonic Diseases, Functional / genetics*
  • Diarrhea / drug therapy
  • Diarrhea / genetics*
  • Female
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Transport Proteins*
  • Middle Aged
  • Nerve Tissue Proteins*
  • Pharmacogenetics*
  • Polymorphism, Genetic*
  • Serotonin / metabolism
  • Serotonin Plasma Membrane Transport Proteins

Substances

  • Carbolines
  • Carrier Proteins
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • alosetron
  • Serotonin