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Possible association between the androgen receptor gene and autism spectrum disorder

Henningsson, Susanne ; Jonsson, Lina ; Ljunggren, Elin ; Westberg, Lars ; Gillberg, Carina ; Råstam, Maria LU orcid ; Anckarsäter, Henrik LU ; Nygren, Gudrun ; Landen, Mikael and Thuresson, Kent , et al. (2009) In Psychoneuroendocrinology 34(5). p.752-761
Abstract
Autism is a highly heritable disorder but the specific genes involved remain largely unknown. The higher prevalence of autism in men than in women, in conjunction with a number of other observations, has led to the suggestion that prenatal brain exposure to androgens may be of importance for the development of this condition. Prompted by this hypothesis, we investigated the potential influence of variation in the androgen receptor (AR) gene on the susceptibility for autism. To this end, 267 subjects with autism spectrum disorder and 617 controls were genotyped for three polymorphisms in exon I of the AR gene: the CAG repeat, the GGN repeat and the rs6152 SNP. In addition, parents and affected siblings were genotyped for 118 and 32 of the... (More)
Autism is a highly heritable disorder but the specific genes involved remain largely unknown. The higher prevalence of autism in men than in women, in conjunction with a number of other observations, has led to the suggestion that prenatal brain exposure to androgens may be of importance for the development of this condition. Prompted by this hypothesis, we investigated the potential influence of variation in the androgen receptor (AR) gene on the susceptibility for autism. To this end, 267 subjects with autism spectrum disorder and 617 controls were genotyped for three polymorphisms in exon I of the AR gene: the CAG repeat, the GGN repeat and the rs6152 SNP. In addition, parents and affected siblings were genotyped for 118 and 32 of the cases, respectively. Case-control comparisons revealed higher prevalence of short CAG alleles as well as of the A allele of the rs6152 SNP in female cases than in controls, but revealed no significant differences with respect to the GGN repeat. Analysis of the 118 families using transmission disequilibrium test, on the other hand, suggested an association with the GGN polymorphism, the rare 20-repeat allele being undertransmitted to male cases and the 23-repeat allele being overtransmitted to female cases. Sequencing of the AR gene in 46 patients revealed no mutations or rare variants. The results tend some support for an influence of the studied polymorphisms on the susceptibility for autism, but argue against the possibility that mutations in the AR gene are common in subjects with this condition. (C) 2008 Elsevier Ltd. All rights reserved. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Autism, Testosterone, Polymorphism, GGN repeat, CAG repeat, Androgens, Rs6152
in
Psychoneuroendocrinology
volume
34
issue
5
pages
752 - 761
publisher
Elsevier
external identifiers
  • wos:000265953900013
  • scopus:64449087475
ISSN
1873-3360
DOI
10.1016/j.psyneuen.2008.12.007
language
English
LU publication?
yes
id
cdbb7447-d665-426e-a124-937608d4627a (old id 1425802)
alternative location
http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6TBX-4VFBYF5-1&_user=10&_coverDate=06%2F30%2F2009&_rdoc=1&_fmt=high&_orig=search&_origin=search&_sort=d&_docanchor=&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=f46cf9283da394c0305d597884724ee8&searchtype=a
date added to LUP
2016-04-01 12:05:40
date last changed
2022-04-21 02:20:18
@article{cdbb7447-d665-426e-a124-937608d4627a,
  abstract     = {{Autism is a highly heritable disorder but the specific genes involved remain largely unknown. The higher prevalence of autism in men than in women, in conjunction with a number of other observations, has led to the suggestion that prenatal brain exposure to androgens may be of importance for the development of this condition. Prompted by this hypothesis, we investigated the potential influence of variation in the androgen receptor (AR) gene on the susceptibility for autism. To this end, 267 subjects with autism spectrum disorder and 617 controls were genotyped for three polymorphisms in exon I of the AR gene: the CAG repeat, the GGN repeat and the rs6152 SNP. In addition, parents and affected siblings were genotyped for 118 and 32 of the cases, respectively. Case-control comparisons revealed higher prevalence of short CAG alleles as well as of the A allele of the rs6152 SNP in female cases than in controls, but revealed no significant differences with respect to the GGN repeat. Analysis of the 118 families using transmission disequilibrium test, on the other hand, suggested an association with the GGN polymorphism, the rare 20-repeat allele being undertransmitted to male cases and the 23-repeat allele being overtransmitted to female cases. Sequencing of the AR gene in 46 patients revealed no mutations or rare variants. The results tend some support for an influence of the studied polymorphisms on the susceptibility for autism, but argue against the possibility that mutations in the AR gene are common in subjects with this condition. (C) 2008 Elsevier Ltd. All rights reserved.}},
  author       = {{Henningsson, Susanne and Jonsson, Lina and Ljunggren, Elin and Westberg, Lars and Gillberg, Carina and Råstam, Maria and Anckarsäter, Henrik and Nygren, Gudrun and Landen, Mikael and Thuresson, Kent and Betancur, Catalina and Leboyer, Marion and Gillberg, Christopher and Eriksson, Elias and Melke, Jonas}},
  issn         = {{1873-3360}},
  keywords     = {{Autism; Testosterone; Polymorphism; GGN repeat; CAG repeat; Androgens; Rs6152}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{752--761}},
  publisher    = {{Elsevier}},
  series       = {{Psychoneuroendocrinology}},
  title        = {{Possible association between the androgen receptor gene and autism spectrum disorder}},
  url          = {{http://dx.doi.org/10.1016/j.psyneuen.2008.12.007}},
  doi          = {{10.1016/j.psyneuen.2008.12.007}},
  volume       = {{34}},
  year         = {{2009}},
}