Science · 1996 · 5.2K citations · 57 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsNeurogeneticsPharmacogeneticsAntidepressant PharmacologyAnxiety DisordersNeuropsychiatric GeneticsPersonality GeneticsPsychiatric GeneticsSerotonergic SignalingAnxiety Disorder GeneticsAssociation StudiesHtt GenePharmacogenomic Association StudiesSerotonin Receptor PolymorphismsSerotonin Transporter Gene VariantsSerotonin Transporter PolymorphismUpstream Regulatory Elements
Transporter-facilitated uptake of serotonin (5-hydroxytryptamine or 5-HT) has been implicated in anxiety in humans and animal models and is the site of action of widely used uptake-inhibiting antidepressant and antianxiety drugs. Human 5-HT transporter (5-HTT) gene transcription is modulated by a common polymorphism in its upstream regulatory region. The short variant of the polymorphism reduces the transcriptional efficiency of the 5-HTT gene promoter, resulting in decreased 5-HTT expression and 5-HT uptake in lymphoblasts. Association studies in two independent samples totaling 505 individuals revealed that the 5-HTT polymorphism accounts for 3 to 4 percent of total variation and 7 to 9 percent of inherited variance in anxiety-related personality traits in individuals as well as sibships.
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Allelic Variation of Human Serotonin Transporter Gene Expression
Armin Heils, Andreas Teufel, Susanne Petri et al. · Journal of Neurochemistry · 1996 · 2.2K citations