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Association between ASMT and autistic-like traits in children from a Swedish nationwide cohort

Jonsson, Linaa; Anckarsäter, Henrikb; Zettergren, Annaa; Westberg, Larsa; Walum, Hassee; Lundström, Sebastianb,d,c; Larsson, Henrike; Lichtenstein, Paule; Melke, Jonasa

doi: 10.1097/YPG.0000000000000010
Original Articles

Individuals with autism spectrum disorders often show low levels of melatonin, and it has been suggested that this decrease may be because of the low activity of the acetylserotonin O-methyltransferase (ASMT), the last enzyme in the melatonin-synthesis pathway. Also, genetic variants in ASMT have been associated with autism, as well as with low ASMT activity and melatonin levels, suggesting that the low ASMT activity observed in autism may partly be because of variations within the ASMT gene. In this study, we present a symptom-based approach to investigate possible associations between ASMT and autistic-like traits in the general population. To this end, continuous measures of autistic-like traits were assessed in a nationally representative twin cohort (n=1771) from Sweden and six single nucleotide polymorphisms (SNPs), and a duplication of exons 2–8 in ASMT were genotyped. Our results show a nominally significant association, in girls, between one single nucleotide polymorphism (rs5949028) in the last intron of ASMT and social interaction impairments. No significant association, however, was observed with traits related to language impairment or restricted and repetitive behavior. In conclusion, our results support the possible involvement of the ASMT gene in autism spectrum disorders, and our finding that only one of the three traits shows association suggests that genetic research may benefit from adopting a symptom-specific approach to identify genes involved in autism psychopathology.

Departments of aPharmacology

bForensic Psychiatry, Institute of Neuroscience and Physiology at the Sahlgrenska Academy

cGillberg Neuropsychiatry Centre, Institute of Neuroscience and Physiology, University of Gothenburg

dR&D Unit, Swedish Prison and Probation Service, Gothenburg

eDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden

Correspondence to Lina Jonsson, MSc, Department of Pharmacology, Institute of Neuroscience and Physiology at the Sahlgrenska Academy, University of Gothenburg, PO Box 431, SE 405 30 Gothenburg, Sweden Tel: +46 31 786 3227; fax: +46 31 786 3164; e-mail:

Received February 22, 2013

Accepted May 13, 2013

© 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins