5-HT2A receptor gene polymorphisms and irritable bowel syndrome.

Goals: 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.

Study: 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.