Polymorphisms of the steroid sulfatase (STS) gene are associated with attention deficit hyperactivity disorder and influence brain tissue mRNA expression

Brookes K. J., Hawi, Z., Park, J., Scott, S., Gill, M. and Kent, L. (2010) Polymorphisms of the steroid sulfatase (STS) gene are associated with attention deficit hyperactivity disorder and influence brain tissue mRNA expression. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153B 8: 1417-1424. doi:10.1002/ajmg.b.31120


Author Brookes K. J.
Hawi, Z.
Park, J.
Scott, S.
Gill, M.
Kent, L.
Title Polymorphisms of the steroid sulfatase (STS) gene are associated with attention deficit hyperactivity disorder and influence brain tissue mRNA expression
Journal name American Journal of Medical Genetics Part B: Neuropsychiatric Genetics   Check publisher's open access policy
ISSN 1552-4841
1552-485X
Publication date 2010-12-01
Sub-type Article (original research)
DOI 10.1002/ajmg.b.31120
Open Access Status DOI
Volume 153B
Issue 8
Start page 1417
End page 1424
Total pages 8
Place of publication Hoboken, NJ, United States
Publisher John Wiley & Sons
Language eng
Formatted abstract
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.
Keyword Steroid sulfatase
ADHD
Association study
Human brain tissue
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
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Created: Fri, 21 Oct 2011, 03:36:27 EST by Ziarih Hawi on behalf of Queensland Brain Institute