Family-based association study of the 5-HT transporter gene and schizophrenia

Int J Neuropsychopharmacol. 2005 Mar;8(1):87-92. doi: 10.1017/S1461145704004948. Epub 2005 Jan 10.

Abstract

The gene coding for the 5-HT transporter (5-HTT) is considered as a candidate gene for schizophrenia, because this transporter plays a key role in serotonin neurotransmission. Previous genetic studies focusing on this gene yielded conflicting results, presumably because of stratification biases linked to the case-control association study approach, and the potential genetic and phenotypic heterogeneity of schizophrenia. We investigated the 5-HTTLPR and 17-bp VNTR (variable number of tandem repeats) polymorphisms of this gene in 103 trios using the transmission disequilibrium test. No preferential transmission of either allele of the 17-bp VNTR was observed, but an excess of transmission of the L allele of the 5-HTTLPR polymorphism was detected (p = 0.03). As the haplotype analyses did not improve the strength of the association, our data provide convergent evidence for a significant role of the 5-HTTLPR promoter polymorphism of the 5-HTT gene in the vulnerability to schizophrenia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Female
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease / genetics
  • Genetic Variation / genetics
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Linkage Disequilibrium
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Transport Proteins / genetics*
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Polymorphism, Genetic / genetics*
  • Promoter Regions, Genetic / genetics
  • Schizophrenia / genetics*
  • Serotonin / metabolism
  • Serotonin Plasma Membrane Transport Proteins
  • Synaptic Transmission / genetics

Substances

  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • Serotonin