A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders.
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 (approximately 350) and controls (approximately 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.
Sakurai
Takeshi
T
Laboratory of Molecular Neuropsychiatry, the Seaver Autism Research Center, Mount Sinai School of Medicine, New York, NY 10029, USA.
Reichert
Jennifer
J
Hoffman
Ellen J
EJ
Cai
Guiqing
G
Jones
Hywel B
HB
Faham
Malek
M
Buxbaum
Joseph D
JD
D000483:Alleles; D001321:Autistic Disorder / Q000453:epidemiology / Q000235:genetics*; D003192:Compulsive Behavior / Q000453:epidemiology / Q000523:psychology; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*; D055815:Young Adult
C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins