Special Issue: Serotonin — Basic Research and Clinical Implications

Journal of Neural Transmission

, Volume 104, Issue 10, pp 1005-1014

First online:

The human serotonin transporter gene polymorphism-basic research and clinical implications

  • A. HeilsAffiliated withDepartment of Psychiatry, University of Würzburg
  • , R. MößnerAffiliated withDepartment of Psychiatry, University of Würzburg
  • , K. P. LeschAffiliated withDepartment of Psychiatry, University of Würzburg

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Mood, emotion, and cognition are modulated by the serotonergic midbrain raphe system, which seems to be involved in the pathogenesis of psychiatric disorders like those of the affective spectrum.

Since a dysregulation of serotonin transporter expression might be important in the course of those disorders, we isolated and cloned the 5′-regulatory region of the serotonin transporter gene, which is inducible by cAMP-and PKC-dependend signal transduction pathways.

Systematic screening for length variations and functional promoter analyses revealed a genetic polymorphism with allelic variation in transcriptional activity and protein expression. This 5-HTT gene polymorphism comprises a tandemly repeated sequence in the 5′-regulatory promoter region of the serotonin transporter gene.

Recent population association studies demonstrated the 5-HTT gene promoter polymorphism accounting for 4–5% of population variation of anxiety-related behavioral traits.


Serotonin transporter gene polymorphism allelic association genetics