Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically distinct samples

Antonio M. Persico, Roberto Militerni, Carmela Bravaccio, Cindy Schneider, Raun Melmed, Monica Conciatori, Valerio Damiani, Alfonso Baldi, Flavio Keller

Research output: Contribution to journalArticlepeer-review


Family-based studies performed to date provide conflicting evidence of linkage/association between autistic disorder and either the 'short' [Cook et al., 1997: Mol Psychiatry 2:247-250] or the 'long' [Klauck et al., 1997: Hum Mol Genet 6:2233-2238] allele of a polymorphic repeat located in the serotonin transporter (5-HTT) gene promoter region, affecting 5-HTT gene expression [Lesch et al., 1996: Science 274:15271531]. The present study was designed to assess linkage and linkage disequilibrium in two new ethnically distinct samples of families with primary autistic probands. The 5-HTT promoter repeat was genotyped in 54 singleton families collected in Italy and in 32 singleton and 5 multiplex families collected in the U.S.A., yielding a total sample of 98 trios. Linkage/association between 5-HTT gene promoter alleles and autistic disorder was assessed using the transmission/disequilibrium test (TDT) and the haplotype-based haplotype relative risk (HHRR). Both the Italian and the American samples, either singly or combined, displayed no evidence of linkage/association between 5- HTT gene promoter alleles and autistic disorder. Our findings do not support prominent contributions of 5-HTT gene variants to the pathogenesis of idiopathic infantile autism. Heterogeneity in pathogenetic mechanisms underlying the disease may require that linkage/association studies be targeted toward patient subgroups isolated on the basis of specific biochemical markers, such as serotonin (5-HT) blood levels. (C) 2000 Wiley- Liss, Inc.

Original languageEnglish
Pages (from-to)123-127
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number1
Publication statusPublished - Feb 7 2000


  • Haplotype relative risk
  • Pervasive developmental disorders
  • Transmission disequilibrium test

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

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