Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder

被引：0

作者：

Betancur C. ^{[1
]}

Corbex M. ^{[2
]}

Spielewoy C. ^{[1
]}

Philippe A. ^{[1
,3
]}

Laplanche J.-L. ^{[1
,4
]}

Launay J.-M. ^{[4
]}

Gillberg C. ^{[5
]}

Mouren-Siméoni M.-C. ^{[6
]}

Hamon M. ^{[7
]}

Giros B. ^{[1
]}

Nosten-Bertrand M. ^{[1
]}

Leboyer M. ^{[1
,3
]}

Gillberg C. ^{[5
]}

Rastam M. ^{[8
]}

Gillberg C. ^{[5
]}

Nydén A. ^{[8
]}

机构：

[1] INSERM U513, Faculté de Médecine

[2] CNRS, UMR 9923, Hôpital Pitié-Salpétriére

[3] Department of Psychiatry, Hôpital Albert Chenevier et Henri Mondor

[4] Service de Biochimie, Hôpital Lariboisière

[5] Department of Child and Adolescent Psychiatry, Göteborg University

[6] Service de Psychopathologie de l’Enfant et de l’Adolescent, Hôpital Robert Debré

[7] INSERM U288, Facultéde Médecine Pitié-Salpê trière

[8] Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg

来源：

Molecular Psychiatry | 2002年 / 7卷 / 1期

关键词：

Association; Autistic disorder; Endophenotype; Linkage disequilibrium; Serotonin; Serotonin transporter;

D O I：

10.1038/sj.mp.4000923

中图分类号：

学科分类号：

摘要：

Previous studies have provided conflicting evidence regarding the association of the serotonin transporter (5-HTT) gene with autism. Two polymorphisms have been identified in the human 5-HTT gene, a VNTR in intron 2 and a functional deletion/insertion in the promoter region (5-HTTLPR) with short and long variants. Positive associations of the 5-HTTLPR polymorphism with autism have been reported by two family-based studies, but one found preferential transmission of the short allele and the other of the long allele. Two subsequent studies failed to find evidence of transmission disequilibrium at the 5-HTTLPR locus. These conflicting results could be due to heterogeneity of clinical samples with regard to serotonin (5-HT) blood levels, which have been found to be elevated in some autistic subjects. Thus, we examined the association of the 5-HTTLPR and VNTR polymorphisms of the 5-HTT gene with autism, and we investigated the relationship between 5-HTT variants and whole-blood 5-HT. The transmission/disequilibrium test (TDT) revealed no linkage disequilibrium at either loci in a sample of 96 families comprising 43 trios and 53 sib pairs. Furthermore, no significant relationship between 5-HT blood levels and 5-HTT gene polymorphisms was found. Our results suggest that the 5-HTT gene is unlikely to play a major role as a susceptibility factor in autism.

引用

页码：67 / 71

页数：4

共 30 条

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