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Associations between polymorphisms in sex steroid related genes and autistic-like traits.

Journal article
Authors Anna Zettergren
Lina Jonsson
Daniel Johansson
Jonas Melke
Sebastian Lundström
Henrik Anckarsäter
Paul Lichtenstein
Lars Westberg
Published in Psychoneuroendocrinology
Volume 38
Issue 11
Pages 2575–2584
ISSN 1873-3360
Publication year 2013
Published at Institute of Neuroscience and Physiology
Gillberg Neuropsychiatry Centre
Institute of Neuroscience and Physiology, Department of Pharmacology
Centre for Ethics, Law, and Mental Health
Pages 2575–2584
Language en
Subject categories Child and adolescent psychiatry


Sex differences in psychiatric disorders are common, which is particularly striking in autism spectrum disorders (ASDs) that are four times more prevalent in boys. High levels of testosterone during early development have been hypothesized to be a risk factor for ASDs, supported by several studies showing fetal testosterone levels, as well as indirect measures of prenatal androgenization, to be associated with ASDs and autistic-like traits (ALTs). Further, the importance of sex steroid related genes in ASDs is supported by studies reporting associations between polymorphisms in genes involved in sex steroid synthesis/metabolism and ASDs and ALTs. The aim of the present study was to investigate possible associations between 29 single nucleotide polymorphisms (SNPs) in eight genes related to sex steroids and autistic features. Individuals included in the study belong to a subset (n=1771) from The Child and Adolescent Twin Study in Sweden (CATSS), which are all assessed for ALTs. For two SNPs, rs2747648 located in the 3'-UTR of ESR1 encoding the estrogen receptor alpha and rs523349 (Leu89Val) located in SRD5A2 encoding 5-alpha-reductase, type 2, highly significant associations with ALTs were found in boys and girls, respectively. The results of the present study suggest that SNPs in sex steroid related genes, known to affect gene expression (rs2747648 in ESR1) and enzymatic activity (Leu89Val in SRD5A2), seem to be associated with ALTs in a general population. In conclusion, the current findings provide further support for a role of sex steroids in the pathophysiology of ASDs.

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