Evidence of linkage between the serotonin transporter and autistic disorder.

Cook EH, Courchesne R, Lord C, Cox NJ, Yan S, Lincoln A, Haas R, Courchesne E, Leventhal BL
Mol Psychiatry. 1997 2 (3): 247-50

PMID: 9152989 · DOI:10.1038/sj.mp.4000266

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.

MeSH Terms (14)

Adolescent Adult Autistic Disorder Carrier Proteins Child Child, Preschool Female Genetic Linkage Humans Male Membrane Glycoproteins Membrane Transport Proteins Nerve Tissue Proteins Serotonin Plasma Membrane Transport Proteins

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