Susceptibility for schizophrenia is not influenced by a functional insertion/deletion variant in the promoter of the serotonin transporter gene

Eur Arch Psychiatry Clin Neurosci. 1998;248(2):82-6. doi: 10.1007/s004060050022.

Abstract

A possible dysregulation of serotonergic neurotransmission has been implicated in the aetiology of schizophrenic psychoses. In the present study we analysed allelic and genotypic variations of a recently described functional polymorphic region in the promoter of the human serotonin transporter gene (5-HTTLPR) and a variable tandem repeat (VNTR) in intron 2 of the 5-HTT gene. We investigated 413 unrelated individuals, 180 schizophrenic patients and 233 blood donors as controls. With regard to the 5-HTTLPR, both the schizophrenic and the control group did not significantly differ between genotype frequencies (chi2, p = 0.920) and allele frequencies (chi2, p = 0.836). The odds ratio for subjects with schizophrenia who were homozygous for the short allele was 1.04 (95% CI 0.59-1.84). No evidence of allelic association to specific schizophrenia subtypes was found. The 5-HTT associated VNTR also showed no significant differences between either the allelic or the genotypic distributions. Haplotype analysis revealed a significant overall linkage disequilibrium at a level of p = 0.00004. Our findings indicate that both polymorphisms are unlikely to play a substantial role in the genetic predisposition to schizophrenic disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Carrier Proteins / genetics*
  • Chromosome Deletion*
  • DNA Transposable Elements / genetics*
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genotype
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Transport Proteins*
  • Minisatellite Repeats / genetics
  • Nerve Tissue Proteins*
  • Promoter Regions, Genetic / genetics*
  • Schizophrenia / genetics*
  • Serotonin Plasma Membrane Transport Proteins

Substances

  • Carrier Proteins
  • DNA Transposable Elements
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins