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Further investigations of the relation between polymorphisms in sex steroid related genes and autistic-like traits.

Journal article
Authors Anna Zettergren
Sara Karlsson
Daniel Hovey
Lina Jonsson
Jonas Melke
Henrik Anckarsäter
Paul Lichtenstein
Sebastian Lundström
Lars Westberg
Published in Psychoneuroendocrinology
Volume 68
Pages 1-5
ISSN 1873-3360
Publication year 2016
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Gillberg Neuropsychiatry Centre
Institute of Neuroscience and Physiology, Department of Pharmacology
Centre for Ethics, Law, and Mental Health
Pages 1-5
Language en
Links dx.doi.org/10.1016/j.psyneuen.2016....
Keywords polymorphisms, sex steroid, genes, autistic-like traits
Subject categories Pharmacology and Toxicology

Abstract

Autism spectrum disorders (ASDs) are more prevalent in boys than in girls, indicating that high levels of testosterone during early development may be a risk factor. Evidence for this hypothesis comes from studies showing associations between fetal testosterone levels, as well as indirect measures of prenatal androgenization, and ASDs and autistic-like traits (ALTs). In a recent study we reported associations between ALTs and single nucleotide polymorphisms (SNPs) in the genes encoding estrogen receptor 1 (ESR1), steroid-5-alpha-reductase, type 2 (SRD5A2) and sex hormone-binding globulin (SHBG) in a subset (n=1771) from the Child and Adolescent Twin Study in Sweden (CATSS). The aim of the present study was to try to replicate these findings in an additional, larger, sample of individuals from the CATSS (n=10,654), as well as to analyze additional SNPs of functional importance in SHBG and SRD5A2. No associations between the previously associated SNPs in the genes ESR1 and SRD5A2 and ALTs could be seen in the large replication sample. Still, our results show that two non-linked SNPs (rs6259 and rs9901675) at the SHBG gene locus might be of importance for language impairment problems in boys. The results of the present study do not point toward a major role for the investigated SNPs in the genes ESR1 and SRD5A2 in ALTs, but a possible influence of genetic variation in SHBG, especially for language impairment problems in boys, cannot be ruled out.

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