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

Artikel i vetenskaplig tidskrift
Författare Anna Zettergren
Lina Jonsson
Daniel Johansson
Jonas Melke
Sebastian Lundström
Henrik Anckarsäter
Paul Lichtenstein
Lars Westberg
Publicerad i Psychoneuroendocrinology
Volym 38
Nummer/häfte 11
Sidor 2575–2584
ISSN 1873-3360
Publiceringsår 2013
Publicerad vid Institutionen för neurovetenskap och fysiologi
Gillbergcentrum
Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi
Centrum för etik, juridik och mental hälsa
Sidor 2575–2584
Språk en
Länkar dx.doi.org/10.1016/j.psyneuen.2013....
Ämneskategorier Barn- och ungdomspsykiatri

Sammanfattning

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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