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Titolo:
Role of the serotonin transporter gene in the behavioral expression of autism
Autore:
Tordjman, S; Gutknecht, L; Carlier, M; Spitz, E; Antoine, C; Slama, F; Carsalade, V; Cohen, DJ; Ferrari, P; Roubertoux, PL; Anderson, GM;
Indirizzi:
Univ Paris Sud, Fdn Vallee, F-94257 Gentilly, France Univ Paris Sud Gentilly France F-94257 Vallee, F-94257 Gentilly, France CNRS, FRE 2134, F-45071 Orleans 2, France CNRS Orleans France 2CNRS, FRE 2134, F-45071 Orleans 2, France Yale Univ, Sch Med, Dept Child Psychiat, New Haven, CT USA Yale Univ New Haven CT USA h Med, Dept Child Psychiat, New Haven, CT USA
Titolo Testata:
MOLECULAR PSYCHIATRY
fascicolo: 4, volume: 6, anno: 2001,
pagine: 434 - 439
SICI:
1359-4184(200107)6:4<434:ROTSTG>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKAGE DISEQUILIBRIUM; PLATELET SEROTONIN; DISORDER; ASSOCIATION; POLYMORPHISM; 5-HTT; TWIN; HETEROGENEITY; INDIVIDUALS; CHILDREN;
Keywords:
autism severity; extended TDT; HTT promoter polymorphism; SLC6A4; allelic transmission; modifying loci;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Tordjman, S Univ Paris Sud, Fdn Vallee, 7 Rue Benserade, F-94257 Gentilly,France Univ Paris Sud 7 Rue Benserade Gentilly France F-94257 France
Citazione:
S. Tordjman et al., "Role of the serotonin transporter gene in the behavioral expression of autism", MOL PSYCHI, 6(4), 2001, pp. 434-439

Abstract

The promoter polymorphism of the serotonin transporter gene (HTT, locus SLC6A4) is of special interest in autism given the well-replicated platelet hyperserotonemia of autism, treatment effects of serotonin reuptake inhibitors, and the role of serotonin in limbic functioning and neurodevelopment. Parent-offspring transmission of the long (l) and short (s) alleles of the deletion/insertion polymorphism in the HTT promoter region was examined in families of 71 children with autism using the transmission test for linkage disequilibrium (TDT). Transmission of HTT promoter alleles did not differ between probands with autism and their unaffected siblings. However, allelictransmission in probands was dependent upon severity of impairments in thesocial and communication domains, with greater s allele transmission in severely impaired individuals and greater I transmission in mild/moderately impaired individuals. This relationship between HTT promoter alleles and severity of autistic impairment was also seen when ratings of social and communication behaviors were compared across genotypes. The data indicate that HTT promoter alleles by themselves do not convey risk for autism, but, rather, modify the severity of autistic behaviors in the social and communication domains. The results require replication and, given the size of the groups and subgroups examined, must be considered still preliminary. The resultssuggest that future research on the genetics of autism should carefully assess each of the major behavioral domains and seriously consider the possible role of modifying loci.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/03/20 alle ore 23:00:31