Serotonin transporter (5-HTT) gene variants associated with autism? |
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Authors: | Klauck SM; Poustka F; Benner A; Lesch KP; Poustka A |
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Institution: | Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany. s.klauck@dkfz-heidelberg.de |
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Abstract: | An association study was performed to elucidate the role of the serotonin
transporter (5-HTT) gene as a susceptibility factor for autism as treatment
of patients with antidepressant drugs which selectively target 5-HTT
reduced autistic or concomitant symptoms, such as repetitive behavior and
aggression, and ameliorate language use. Using the
transmission/disequilibrium test (TDT) an analysis was done for a common
polymorphism in the upstream regulatory region (5-HTTLPR), a VNTR in intron
2 of the gene and a haplotype of both loci in 52 trios fulfilling stringent
criteria for autism and an extended group of 65 trios including patients
showing no language delay in their first 3 years of life. A higher
frequency and preferential transmission of the long allele of the 5-HTTLPR
was observed, but the TDT gave a statistically significant value ( P = 0.
032) only for the extended patient group. This result is in contrast to a
recent study by a US group presenting preliminary evidence for preferential
transmission of the short allele of 5-HTTLPR in 86 trios. Both studies
failed to reveal significant linkage disequilibrium between the VNTR in
intron 2 of the gene and autism. In our study haplotype analysis of the
5-HTTLPR and the VNTR in intron 2 supplied evidence for an association of
5-HTT and autism in the stringent ( P = 0.069) and extended patient group (
P = 0.049). Overall, we were not able to replicate the findings of the
first study on 5-HTT and autism and instead observed a tendency for
association of the opposite genetic variant of the gene with the disorder.
The implications for genetic variants of the serotonin transporter in the
etiology of autism and possible subgroups of patients, therefore, needs
clarification in further studies with other and larger patient samples.
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