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: E H Cook Jr, R Courchesne, C Lord, N J Cox, S Yan, A Lincoln, R Haas, E Courchesne, B L Leventhal
• Journal: Molecular psychiatry (Mol Psychiatry) Vol. 2 Issue 3 Pg. 247-50 (May 1997) ISSN: 1359-4184 [Print] England
• PMID: 9152989 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Carrier Proteins
• Membrane Glycoproteins
• Membrane Transport Proteins
• Nerve Tissue Proteins
• SLC6A4 protein, human
• Serotonin Plasma Membrane Transport Proteins

Topics

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