Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers

BMC Psychiatry

Göran C Sedvall⁴  Elias Eriksson³  Markus M Nöthen²  Peter Propping¹  Sven Cichon²  Roland Ivo¹  Lars Westberg³  Johannes Schumacher¹  Rami Abou Jamra¹  Jonas Melke³  Jessica Bah³  Erik G Jönsson⁴ 

[1] Institute of Human Genetics, University of Bonn, Germany;Department of Medical Genetics, University of Antwerp, Belgium;Department of Pharmacology, Göteborg University, Sweden;Department of Clinical Neuroscience, Psychiatry Section, HUBIN project, Karolinska Institutet, Stockholm, Sweden

关键词: cerebrospinal fluid;    MHPG);    5-HIAA;    monoamine metabolites (HVA;    dopamine β-hydroxylase gene;    dopamine D4 receptor gene;    serotonin receptor 3A gene;    Serotonin receptor 2C gene;   

Others  :  1125143
DOI  :  10.1186/1471-244X-4-4

 received in 2003-09-19, accepted in 2004-03-04,  发布年份 2004

【 摘 要 】

Background

Concentrations of monoamine metabolites in human cerebrospinal fluid (CSF) have been used extensively as indirect estimates of monoamine turnover in the brain. CSF monoamine metabolite concentrations are partly determined by genetic influences.

Methods

We investigated possible relationships between DNA polymorphisms in the serotonin 2C receptor (HTR2C), the serotonin 3A receptor (HTR3A), the dopamine D₄ receptor (DRD4), and the dopamine β-hydroxylase (DBH) genes and CSF concentrations of 5-hydroxyindolacetic acid (5-HIAA), homovanillic acid (HVA), and 3-methoxy-4-hydroxyphenylglycol (MHPG) in healthy volunteers (n = 90).

Results

The HTR3A 178 C/T variant was associated with 5-HIAA levels (p = 0.02). The DBH-1021 heterozygote genotype was associated with 5-HIAA (p = 0.0005) and HVA (p = 0.009) concentrations. Neither the HTR2C Cys23Ser variant, nor the DRD4 -521 C/T variant were significantly associated with any of the monoamine metabolites.

Conclusions

The present results suggest that the HTR3A and DBH genes may participate in the regulation of dopamine and serotonin turnover rates in the central nervous system.

【 授权许可】

   
2004 Jönsson et al; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.

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