An improved in silico selection of phenotype affecting polymorphisms in SLC6A4, HTR1A and HTR2A genes

Hum Psychopharmacol. 2010 Mar;25(2):153-61. doi: 10.1002/hup.1100.

Abstract

Objective: Among the experimentally assessed DNA variations in serotonin related genes, some influence physiological expression of personality and mental disorders, others alter the responses to pharmacological and/or psychotherapeutic treatments. Because of the huge number of polymorphisms lying in genes and of the great length of time necessary to perform association studies, a selection of the variations being studied is a necessary and crucial step.

Methods: In this work we used the most updated and assessed bioinformatic tools to predict the phenotype affecting polymorphisms of the human HTR1A, HTR2A and SLC6A4 serotonin related genes. Moreover, we carried out a literature search to collect information about the recent association studies to compare it versus our prediction data.

Results: Gene polymorphism analysis indicated the variations that are worth considering in the association studies in the field of psychiatry, psychology and pharmacogenomics. The literature revision allowed to show both the few well and the most not enough investigated polymorphisms.

Conclusions: Our data can be useful to select polymorphisms for new association studies, especially those not yet investigated that can be related to behaviour, mental disorders and individual treatment response.

Publication types

  • Comparative Study

MeSH terms

  • Biotransformation / genetics
  • Computational Biology / methods*
  • Databases, Genetic
  • Expert Systems*
  • Genetic Association Studies
  • Humans
  • Mental Disorders / genetics
  • MicroRNAs / genetics
  • Phenotype*
  • Polymorphism, Genetic*
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • RNA Splicing / genetics
  • Receptor, Serotonin, 5-HT1A / genetics*
  • Receptor, Serotonin, 5-HT2A / genetics*
  • Serotonin / metabolism
  • Serotonin Plasma Membrane Transport Proteins / genetics*
  • Software

Substances

  • MicroRNAs
  • Receptor, Serotonin, 5-HT2A
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • Receptor, Serotonin, 5-HT1A
  • Serotonin