title: 5-HT2A receptor gene polymorphisms and irritable bowel syndrome.
abstract: OBJECTIVE
  The aim of the study was to investigate the potential association between single nucleotide polymorphisms of the 5-HT2A receptor gene and susceptibility to irritable bowel syndrome (IBS) in the Greek population.
  
  
  BACKGROUND
  Serotonin [5-hydroxytryptamine (5-HT)] is the main mediator involved in the pathophysiology of IBS. Thus, genes implicated in 5-HT metabolism are good candidates for susceptibility to IBS. Two single nucleotide polymorphisms -1438 (G/A) and 102 (C/T) in the 5-HT2A receptor gene have been associated with the pathophysiology of IBS.
  
  
  METHODS
  One hundred twenty-four patients with IBS diagnosed according to the Rome III criteria and 238 healthy individuals were included in the study. The -1438 (G/A) and 102 (C/T) in the 5-HT2A receptor gene polymorphisms have been studied using the polymerase chain reaction based restriction fragment length polymorphism method.
  
  
  RESULTS
  A genotype association was found between A allele and AA genotype of the -1438 (G/A) polymorphism and IBS (P=0.0037 and P=0.0064, respectively). Concerning the 102 (C/T) polymorphism, no significant association was found.
  
  
  CONCLUSIONS
  This study suggests that the carriers of A allele of the -1438 (G/A) polymorphism of the 5-HT2A receptor gene have a high risk of IBS.
authors.affiliation: 2nd Department of Gastroenterology, Evangelismos General Hospital, Athens, Greece.
authors.forename: Theofano
authors.initials: T
authors.lastname: Markoutsaki
authors.forename: Theodoros
authors.initials: T
authors.lastname: Karantanos
authors.forename: Maria
authors.initials: M
authors.lastname: Gazouli
authors.forename: Nicholas P
authors.initials: NP
authors.lastname: Anagnou
authors.forename: Dimitrios G
authors.initials: DG
authors.lastname: Karamanolis
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006115:Greece; D006801:Humans; D043183:Irritable Bowel Syndrome / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D044402:Receptor, Serotonin, 5-HT2A / Q000235:genetics*
chemical_list: D044402:Receptor, Serotonin, 5-HT2A