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

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

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 30 KB
Volume: 96
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000207)96:1<123::aid-ajmg24>3.0.co;2-n

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✦ Synopsis

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 stud-ies be targeted toward patient subgroups isolated on the basis of specific biochemical markers, such as serotonin (5-HT) blood levels.

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