Association between single nucleotide polymorphisms of the transient receptor potential vanilloid 1 (TRPV-1) gene and patients with irritable bowel syndrome in Korean populations

Background and study aims : Transient receptor potential vanil- loid type 1 (TRPV1) plays a crucial role in pain perception and its expression is up-regulated in patients with irritable bowel syn- drome (IBS). The aim of this study was to investigate the potential association between Single nucleotide polymorphism (SNPs) of the TRPV-1 gene and patients with IBS. Patients and methods : We chose to focus on three SNPs in the human TRPV1 coding region (rs222749, rs9894618 and rs222747) in 80 healthy controls and 103 IBS patients. We developed the high resolution melting (HRM) method to determine the genotyping of rs222747 and rs9894618 and the genotyping of rs222749 was also determined by direct sequencing method. Results : The CG genotype of rs222747 was 58.8% in controls and 45.6% in the IBS group. The GG genotype of rs222747 was 15.0% in controls and 20.4% in the IBS group. The CT genotype of rs222749 was 31.3% in controls and 32.0% in the IBS group. The CC genotype of rs9894618 was 98.8% in controls and 100.0% in the IBS group. There was no significant difference in allele fre- quency of these three SNPs of the TRPV1 gene between controls and the IBS group. AlsO. no significant difference was observed between the IBS subtypes. Conclusions : These results suggest that the SNPs of the TRPV1 gene may not be associated with IBS in Korean populations. Further studies with large cases are needed to validate the results of the present study. (Acta gastroenterol. belg., 2012, 75, 222-227).