Evidence of linkage between the serotonin transporter and autistic disorder

被引：0
作者：
Cook Jr. E.H. [1 ,5 ]
Courchesne R. [2 ]
Lord C. [2 ]
Cox N.J. [3 ]
Van S. [1 ]
Lincoln A. [2 ]
Haas R. [2 ]
Courchesne E. [2 ,4 ]
Leventhal B.L. [1 ]
机构：
[1] Lab. of Developmental Neuroscience, Department of Psychiatry, University of Chicago, Chicago, IL 60637
[2] Autism/Brain Devmt. Res. Laboratory, Children's Hospital, Research Center, San Diego, CA 92037
[3] Department of Medicine, University of Chicago, Chicago, IL 60637
[4] Neuroscience Department, School of Medicine, Univ. of California at San Diego, San Diego
[5] MC 3077, University of Chicago, Chicago, IL 60637
来源：
Molecular Psychiatry | 1997年 / 2卷 / 3期
关键词：
Autism; Infantile; Linkage; Linkage disequilibrium; Monoamines; Polymorphism; Promoter; Serotonin; Transporter;
D O I：
10.1038/sj.mp.4000266
中图分类号：
学科分类号：
摘要：
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 χ2 = 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 χ2 = 11.85, 4 d.f., P = 0.018). This provides preliminary evidence of linkage and association between HTT and autistic disorder.
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页码：247 / 250
页数：3
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