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Prog Neuropsychopharmacol Biol Psychiatry. 2013 Jan 10;40:292-7. doi: 10.1016/j.pnpbp.2012.10.019. Epub 2012 Oct 31.

Allele-specific associations of 5-HTTLPR/rs25531 with ADHD and autism spectrum disorder.

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Department of Psychiatry and Behavioral Sciences, Stony Brook University, Stony Brook, NY 11794-8790, USA.



The aims of the present study were to examine the association between a common serotonin transporter gene (SLC6A4) polymorphism 5-HTTLPR/rs25531 with severity of attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) symptoms.


Mothers and teachers completed a validated DSM-IV-referenced rating scale for ADHD and ASD symptoms in 118 children with ASD.


Analyses indicated that children with at least one copy of the S or L(G) allele obtained significantly more severe maternal ratings of hyperactivity (p=0.001; ηp(2)=0.097) and impulsivity (p=0.027; ηp(2)=0.044) but not inattention (p=0.061; ηp(2)=0.032), controlling for ASD severity, than children homozygous for the L(A) allele. Conversely, mothers' ratings indicated that children with L(A)/L(A) genotype had more severe ASD social deficits than S or L(G) allele carriers (p=0.003; ηp(2)=0.081), controlling for ADHD symptom severity. Teachers' ratings though consistent with mothers' ratings of hyperactivity and social deficits were marginally significant (p=0.07/p=0.09). There was some evidence that the magnitude of parent-teacher agreement regarding symptom severity varied as a function of the child's genotype.


The 5-HTTLPR/rs25531 polymorphism or its correlates may modulate severity of ADHD and ASD symptoms in children with ASD, but in different ways. These tentative, hypothesis-generating findings require replication with larger independent samples.

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