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A large‐scale screen for coding variants in SERT/ SLC6A4 in autism spectrum disorders
Author(s) -
Sakurai Takeshi,
Reichert Jennifer,
Hoffman Ellen J.,
Cai Guiqing,
Jones Hywel B.,
Faham Malek,
Buxbaum Joseph D.
Publication year - 2008
Publication title -
autism research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.656
H-Index - 66
eISSN - 1939-3806
pISSN - 1939-3792
DOI - 10.1002/aur.30
Subject(s) - autism , heritability of autism , genetics , autism spectrum disorder , psychology , biology , developmental psychology
In the current study we explored the hypothesis that rare variants in SLC6A4 contribute to autism susceptibility and to rigid‐compulsive behaviors in autism. We made use of a large number of unrelated cases with autism spectrum disorders (∼350) and controls (∼420) and screened for rare exonic variants in SLC6A4 by a high‐throughput method followed by sequencing. We observed no difference in the frequency of such variants in the two groups, irrespective of how we defined the rare variants. Furthermore, we did not observe an association of rare coding variants in SLC6A4 with rigid‐compulsive traits scores in the cases. These results do not support a significant role for rare coding variants in SLC6A4 in autism spectrum disorders, nor do they support a significant role for SLC6A4 in rigid‐compulsive traits in these disorders.