A genetic association study of 5-HTT LPR and GNβ3 C825T polymorphisms with irritable bowel syndrome

Y. A. Saito, G. R. Locke, J. M. Zimmerman, G. Holtmann, J. P. Slusser, M. De Andrade, G. M. Petersen, N. J. Talley

Research output: Contribution to journalArticlepeer-review

55 Scopus citations


A pharmacogenetic study suggests the 5-HTT LPR polymorphism predicts response to alosetron, and another study describes a possible association of the GNβ3 C825T polymorphism with IBS in patients with dyspepsia. We performed a case-control association study to determine whether these polymorphisms are associated with irritable bowel syndrome (IBS). The study aim was to compare allele and genotype frequencies between cases and controls for the 5-HTT LPR and the GNβ3 C825T polymorphism. Cases were 50 GI outpatients; controls were 53 General Medicine outpatients matched to cases for age, gender and race at a major medical centre. Participants completed a questionnaire and donated blood. DNA was genotyped using polymerase chain reaction based assays. Eighty-two per cent of cases met Rome II criteria for IBS: 12% constipation-, 46% diarrhoea-, and 42% mixed-IBS. Genotype and allele frequencies for both polymorphisms did not differ between cases and controls. However, the allele frequency of the short (S) allele of the 5-HTT LPR polymorphism was greater in those with mixed-IBS compared with controls (68%vs 45%, P < 0.05). This study suggests that the 5-HTT LPR polymorphism may be associated with mixed-IBS, but not IBS overall. No association was observed for the GNβ3 C825T polymorphism with IBS overall or subtypes.

Original languageEnglish (US)
Pages (from-to)465-470
Number of pages6
JournalNeurogastroenterology and Motility
Issue number6
StatePublished - Jun 2007


  • G-protein
  • Genetic polymorphisms
  • Irritable bowel syndrome
  • Serotonin transporter

ASJC Scopus subject areas

  • Physiology
  • Endocrine and Autonomic Systems
  • Gastroenterology


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