title: Serotonin transporter gene and schizophrenia: evidence for association/linkage disequilibrium in families with affected siblings.
abstract: The serotonergic (5-HT) system has been implicated in the etiopathogenesis of psychoses. Since the 5-HT transporter plays an important role in regulation of 5-HT transmission, its gene can be considered as a candidate for vulnerability to psychiatric disorders. Two polymorphic sites of the 5-HT transporter gene-5-HTTLPR, a VNTR in the 5' regulatory region, and a VNTR in the second intron-were studied in a sample of 61 families with schizophrenia for transmission disequilibrium. Each family contained at least two siblings affected with schizophrenia or schizoaffective disorder (mainly schizophrenic). One hundred and thirty-nine affected offspring with parental information for genotyping, were available for analysis. No preferential transmission of either short or long alleles of the promoter polymorphism was observed. However, a transmission distortion was detected for alleles of the intronic VNTR polymorphism (chi2TDT max =14.33; P = 0.0002; corrected P value = 0.0003) resulting in more frequent than expected transmission of the 12 repeat allele. This finding adds additional evidence to the idea that the serotonergic system may be involved in development of psychoses. Molecular Psychiatry (2000) 5, 91-95.
authors.affiliation: Laboratory of Neurochemistry and Molecular Neurobiology, Ruder Boskovic Institute and Croatian Institute for Brain Research, HR-10 000 Zagreb, Croatia.
authors.forename: D
authors.initials: D
authors.lastname: Hranilovic
authors.forename: S G
authors.initials: SG
authors.lastname: Schwab
authors.forename: B
authors.initials: B
authors.lastname: Jernej
authors.forename: M
authors.initials: M
authors.lastname: Knapp
authors.forename: B
authors.initials: B
authors.lastname: Lerer
authors.forename: M
authors.initials: M
authors.lastname: Albus
authors.forename: M
authors.initials: M
authors.lastname: Rietschel
authors.forename: K
authors.initials: K
authors.lastname: Kanyas
authors.forename: M
authors.initials: M
authors.lastname: Borrmann
authors.forename: D
authors.initials: D
authors.lastname: Lichtermann
authors.forename: W
authors.initials: W
authors.lastname: Maier
authors.forename: D B
authors.initials: DB
authors.lastname: Wildenauer
mesh_terms: D001923:Brain Chemistry / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; D009679:Nuclear Family; D012559:Schizophrenia / Q000235:genetics*; D050486:Serotonin Plasma Membrane Transport Proteins
chemical_list: D002352:Carrier Proteins; D008562:Membrane Glycoproteins; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins