title: Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region.
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.
authors.affiliation: Department of Psychiatry, University of Würzburg, Füchsleinstrasse 15, 97080 Würzburg, Germany. kplesch@rzbox.uni-wuerzburg.de
authors.forename: K P
authors.initials: KP
authors.lastname: Lesch
authors.forename: D
authors.initials: D
authors.lastname: Bengel
authors.forename: A
authors.initials: A
authors.lastname: Heils
authors.forename: S Z
authors.initials: SZ
authors.lastname: Sabol
authors.forename: B D
authors.initials: BD
authors.lastname: Greenberg
authors.forename: S
authors.initials: S
authors.lastname: Petri
authors.forename: J
authors.initials: J
authors.lastname: Benjamin
authors.forename: C R
authors.initials: CR
authors.lastname: Müller
authors.forename: D H
authors.initials: DH
authors.lastname: Hamer
authors.forename: D L
authors.initials: DL
authors.lastname: Murphy
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001008:Anxiety Disorders / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002460:Cell Line; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D009497:Neurotic Disorders / Q000235:genetics*; D009679:Nuclear Family; D010556:Personality Tests; D010641:Phenotype; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012701:Serotonin / Q000378:metabolism*; D050486:Serotonin Plasma Membrane Transport Proteins; D014162:Transfection
chemical_list: D002352:Carrier Proteins; D005819:Genetic Markers; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D012701:Serotonin