Rs 6313 polymorphism in 5-hydroxytryptamine receptor 2A gene association with polysymptomatic primary nocturnal enuresis

J Clin Lab Anal. 2010;24(6):371-5. doi: 10.1002/jcla.20386.

Abstract

Background: Tricyclic antidepressants (TCA) were used to treat nocturnal enuresis (NE) for decades of years although their real mechanisms are unknown. Recently, some case studies demonstrated the efficacy of selective serotonin reuptake inhibitors (SSRI) in the treatment of NE. Both TCA and SSRI have similar influences on serotonin transmission. This study was aimed at evaluating whether 5-hydroxytryptamine receptor 2A (5HTR2A) gene is associated with NE.

Methods: We analyzed rs6313 polymorphism in 5HTR2A gene of 213 Taiwanese children (116 NE cases and 97 healthy control subjects) using polymerase chain reaction-restriction fragment length polymorphism.

Results: There were no significant differences when comparing the genotypes and allelic frequencies of rs6313 polymorphism in 5HTR2A gene between patients with NE and control subjects. However, when subsequently comparing 5HTR2A genotypes and allelic frequencies in NE child with different phenotypes, genotypes TT and TC appeared higher risks of polysymptomatic NE compared with CC (odds ratio (OR)=10.71, 95% confidence interval (CI)=2.66-43.12; OR=2.68, 95% CI=0.67-10.75, respectively; P=0.0002); and allele T also revealed higher frequencies of polysymptomatic NE compared with allele C (OR=3.7, 95% CI=2.01-6.79, P=0.000015).

Conclusions: This is the first study that shows the association between 5HTR2A gene polymorphisms and polysymptomatic NE. These results provide further evidence suggesting that genetic variations at 5HTR2A may influence NE treatment response.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Constipation
  • Diurnal Enuresis
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Humans
  • Male
  • Nocturnal Enuresis / genetics*
  • Nocturnal Enuresis / physiopathology*
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Receptor, Serotonin, 5-HT2A / genetics*
  • Sleep Arousal Disorders
  • Taiwan

Substances

  • Receptor, Serotonin, 5-HT2A