Association of Anxiety-Related Traits with a Polymorphism in the Serotonin Transporter Gene Regulatory Region
- 29 November 1996
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 274 (5292) , 1527-1531
- https://doi.org/10.1126/science.274.5292.1527
Abstract
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.Keywords
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