Serotonin transporter gene promoter variants do not explain the hyperserotoninemia in autistic children

A. M. Persico, T. Pascucci, S. Puglisi-Allegra, R. Militerni, C. Bravaccio, C. Schneider, R. Melmed, S. Trillo, F. Montecchi, M. Palermo, D. Rabinowitz, K. L. Reichelt, M. Conciatori, R. Marino, F. Keller

Research output: Contribution to journalArticle

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Abstract

Autism is a biologically-heterogeneous disease. Distinct subgroups of autistic patients may be marked by intermediate phenotypes, such as elevated serotonin (5-HT) blood levels, potentially associated with different underlying disease mechanisms. This could lead to inconsistent genetic association results, such as those of prior studies on serotonin transporter (5-HTT) gene promoter variants and autistic disorder. Contributions of 5-HTT gene promoter alleles to 5-HT blood levels were thus investigated in 134 autistic patients and 291 first-degree relatives. Mean 5-HT blood levels are 11% higher in autistic patients carrying the L/L genotype, compared to patients with the S/S or S/L genotype; this trend is not observed in first-degree relatives. The probability of inheriting L or S alleles is significantly enhanced in patients with 5-HT blood levels above or below the mean, respectively (P

Original languageEnglish
Pages (from-to)795-800
Number of pages6
JournalMolecular Psychiatry
Volume7
Issue number7
DOIs
Publication statusPublished - 2002

Fingerprint

Serotonin Plasma Membrane Transport Proteins
Serotonin
Genes
Autistic Disorder
Alleles
Genotype
Phenotype

Keywords

  • Allelic association
  • Autism
  • Haplotype relative risk
  • Linkage disequilibrium
  • Peptiduria
  • Pervasive developmental disorders
  • Platelets
  • Serotoninemia
  • Transmission disequilibrium test

ASJC Scopus subject areas

  • Molecular Biology
  • Psychiatry and Mental health

Cite this

Serotonin transporter gene promoter variants do not explain the hyperserotoninemia in autistic children. / Persico, A. M.; Pascucci, T.; Puglisi-Allegra, S.; Militerni, R.; Bravaccio, C.; Schneider, C.; Melmed, R.; Trillo, S.; Montecchi, F.; Palermo, M.; Rabinowitz, D.; Reichelt, K. L.; Conciatori, M.; Marino, R.; Keller, F.

In: Molecular Psychiatry, Vol. 7, No. 7, 2002, p. 795-800.

Research output: Contribution to journalArticle

Persico, AM, Pascucci, T, Puglisi-Allegra, S, Militerni, R, Bravaccio, C, Schneider, C, Melmed, R, Trillo, S, Montecchi, F, Palermo, M, Rabinowitz, D, Reichelt, KL, Conciatori, M, Marino, R & Keller, F 2002, 'Serotonin transporter gene promoter variants do not explain the hyperserotoninemia in autistic children', Molecular Psychiatry, vol. 7, no. 7, pp. 795-800. https://doi.org/10.1038/sj.mp.4001069
Persico, A. M. ; Pascucci, T. ; Puglisi-Allegra, S. ; Militerni, R. ; Bravaccio, C. ; Schneider, C. ; Melmed, R. ; Trillo, S. ; Montecchi, F. ; Palermo, M. ; Rabinowitz, D. ; Reichelt, K. L. ; Conciatori, M. ; Marino, R. ; Keller, F. / Serotonin transporter gene promoter variants do not explain the hyperserotoninemia in autistic children. In: Molecular Psychiatry. 2002 ; Vol. 7, No. 7. pp. 795-800.
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