title: Evidence of linkage between the serotonin transporter and autistic disorder.
abstract: The serotonin transporter gene (HTT) is a primary candidate in autistic disorder based on efficacy of potent serotonin transporter inhibitors in reducing rituals and routines. We initiated a candidate gene study of HTT in trios consisting of probands with autistic disorder and both parents. Preliminary transmission/disequilibrium test (TDT) analysis with 86 families revealed no evidence for linkage or linkage disequilibrium between autistic disorder and a polymorphism in the second intron of HTT. However, preferential transmission of a short variant of the HTT promoter was found in the same 86 trios (TDT chi 2 = 4.69, 1 d.f., P = 0.030). In further analyses, we considered haplotypes of the HTT promoter variant and second intron locus as alleles in a multiallelic TDT. Results confirmed the significance of the effect of this region (TDT chi 2 = 11.85, 4 d.f., P = 0.018). This provides preliminary evidence of linkage and association between HTT and autistic disorder.
authors.affiliation: Department of Psychiatry, University of Chicago, IL 60637, USA.
authors.forename: E H
authors.initials: EH
authors.lastname: Cook
authors.forename: R
authors.initials: R
authors.lastname: Courchesne
authors.forename: C
authors.initials: C
authors.lastname: Lord
authors.forename: N J
authors.initials: NJ
authors.lastname: Cox
authors.forename: S
authors.initials: S
authors.lastname: Yan
authors.forename: A
authors.initials: A
authors.lastname: Lincoln
authors.forename: R
authors.initials: R
authors.lastname: Haas
authors.forename: E
authors.initials: E
authors.lastname: Courchesne
authors.forename: B L
authors.initials: BL
authors.lastname: Leventhal
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D009419:Nerve Tissue Proteins; 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