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Polymorphisms of the Steroid Sulfatase [STS] Gene are Associated With Attention Deficit Hyperactivity Disorder and Influence Brain Tissue mRNA Expression

Previous studies in animals and humans have implicated the X-chromosome STS gene in the etiology of attentional difficulties and attention deficit hyperactivity disorder (ADHD). This family based association study has fine mapped a region of the STS gene across intron 1 and 2 previously associated w...

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Autores principales: Brookes, KJ, Hawi, Z, Park, J, Scott, S, Gill, M, Kent, L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132592/
https://www.ncbi.nlm.nih.gov/pubmed/20862695
http://dx.doi.org/10.1002/ajmg.b.31120
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author Brookes, KJ
Hawi, Z
Park, J
Scott, S
Gill, M
Kent, L
author_facet Brookes, KJ
Hawi, Z
Park, J
Scott, S
Gill, M
Kent, L
author_sort Brookes, KJ
collection PubMed
description Previous studies in animals and humans have implicated the X-chromosome STS gene in the etiology of attentional difficulties and attention deficit hyperactivity disorder (ADHD). This family based association study has fine mapped a region of the STS gene across intron 1 and 2 previously associated with ADHD, in an extended sample of 450 ADHD probands and their parents. Significant association across this region is demonstrated individually with 7 of the 12 genotyped SNPs, as well as an allele specific haplotype of the 12 SNPs. The over transmitted risk allele of rs12861247 was also associated with reduced STS mRNA expression in normal human post-mortem frontal cortex brain tissue compared to the non-risk allele (P = 0.01). These results are consistent with the hypothesis arising from previous literature demonstrating that boys with deletions of the STS gene, and hence no STS protein are at a significantly increased risk of developing ADHD. Furthermore, this study has established the brain tissue transcript of STS, which except from adipose tissue, differs from that seen in all other tissues investigated. © 2010 Wiley-Liss, Inc.
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spelling pubmed-31325922011-07-11 Polymorphisms of the Steroid Sulfatase [STS] Gene are Associated With Attention Deficit Hyperactivity Disorder and Influence Brain Tissue mRNA Expression Brookes, KJ Hawi, Z Park, J Scott, S Gill, M Kent, L Am J Med Genet B Neuropsychiatr Genet Research Article Previous studies in animals and humans have implicated the X-chromosome STS gene in the etiology of attentional difficulties and attention deficit hyperactivity disorder (ADHD). This family based association study has fine mapped a region of the STS gene across intron 1 and 2 previously associated with ADHD, in an extended sample of 450 ADHD probands and their parents. Significant association across this region is demonstrated individually with 7 of the 12 genotyped SNPs, as well as an allele specific haplotype of the 12 SNPs. The over transmitted risk allele of rs12861247 was also associated with reduced STS mRNA expression in normal human post-mortem frontal cortex brain tissue compared to the non-risk allele (P = 0.01). These results are consistent with the hypothesis arising from previous literature demonstrating that boys with deletions of the STS gene, and hence no STS protein are at a significantly increased risk of developing ADHD. Furthermore, this study has established the brain tissue transcript of STS, which except from adipose tissue, differs from that seen in all other tissues investigated. © 2010 Wiley-Liss, Inc. Wiley Subscription Services, Inc., A Wiley Company 2010-12 2010-09-22 /pmc/articles/PMC3132592/ /pubmed/20862695 http://dx.doi.org/10.1002/ajmg.b.31120 Text en Copyright © 2010 Wiley-Liss, Inc., A Wiley Company http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
spellingShingle Research Article
Brookes, KJ
Hawi, Z
Park, J
Scott, S
Gill, M
Kent, L
Polymorphisms of the Steroid Sulfatase [STS] Gene are Associated With Attention Deficit Hyperactivity Disorder and Influence Brain Tissue mRNA Expression
title Polymorphisms of the Steroid Sulfatase [STS] Gene are Associated With Attention Deficit Hyperactivity Disorder and Influence Brain Tissue mRNA Expression
title_full Polymorphisms of the Steroid Sulfatase [STS] Gene are Associated With Attention Deficit Hyperactivity Disorder and Influence Brain Tissue mRNA Expression
title_fullStr Polymorphisms of the Steroid Sulfatase [STS] Gene are Associated With Attention Deficit Hyperactivity Disorder and Influence Brain Tissue mRNA Expression
title_full_unstemmed Polymorphisms of the Steroid Sulfatase [STS] Gene are Associated With Attention Deficit Hyperactivity Disorder and Influence Brain Tissue mRNA Expression
title_short Polymorphisms of the Steroid Sulfatase [STS] Gene are Associated With Attention Deficit Hyperactivity Disorder and Influence Brain Tissue mRNA Expression
title_sort polymorphisms of the steroid sulfatase [sts] gene are associated with attention deficit hyperactivity disorder and influence brain tissue mrna expression
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132592/
https://www.ncbi.nlm.nih.gov/pubmed/20862695
http://dx.doi.org/10.1002/ajmg.b.31120
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