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. 2002;7(1):67-71.
doi: 10.1038/sj/mp/4000923.

Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder

C Betancur  1 , M Corbex, C Spielewoy, A Philippe, J L Laplanche, J M Launay, C Gillberg, M C Mouren-Siméoni, M Hamon, B Giros, M Nosten-Bertrand, M Leboyer
Affiliations

Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder

C Betancur et al. Mol Psychiatry. 2002.

Abstract

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.

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