ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Study Report

Basic Info

Reference	Brookes KJ, 2008(b)18937300
Citation	Brookes K. J., Hawi Z., Kirley A., Barry E., Gill M. and Kent L. (2008) "Association of the steroid sulfatase (STS) gene with attention deficit hyperactivity disorder." Am J Med Genet B Neuropsychiatr Genet, 147B(8): 1531-5.
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	387 probands and their parents
Predominant Ethnicity	Caucasian
Population	United Kingdom, Ireland
Gender	male 88.3%
Age Group	Children/Adolescents : 4-15 years

Detail Info

Summary	In this study they present evidence for a role of the X-linked steroid sulfatase (STS) gene and neurosteroids in the development of ADHD. In a moderately sized sample of ADHD families (N=384), they genotyped seven single nucleotide polymorphisms, tagging the entire gene. TDT analysis of the data yielded two polymorphisms that were significantly associated with ADHD (rs2770112-Transmitted: 71 Not Transmitted; 48; rs12861247-Transmitted: 43 Not Transmitted: 21), located towards the 5' end of the gene (P-value<0.05). They conclude that the STS gene may play a role in susceptibility for ADHD, and that the neurosteroids pathways should be investigated further to access their potential contribution in susceptibility to the disorder.
Total Sample	387 ADHD probands (inclusive of four affected siblings) and their parents were recruited from several child psychiatry clinics in the United Kingdom (N=115) and Ireland (N=272)
Sample Collection	white and born in the United Kingdom or Ireland
Diagnosis Description	All probands fulfilled DSM-IV diagnostic criteria for Attention Deficit Hyperactivity Disorder (ADHD). Of these N=318 (82.2%) had ADHD combined type, N=33 (8.5%) had the inattentive subtype, and N=36 (9.3%) had the hyperactive impulsive subtype.
Technique	High molecular weight genomic DNA was extracted from either whole blood or cheek swab according to routine procedures. Tagging SNPs were identified using genotype information from the HapMap Project and the Tagger program. Predesigned SNP genotyping assays were obtained from Applied Biosystems for use on the TaqMan 7300HT PCR realtime machine following a standardized protocol provided with the assays.
Analysis Method	TDT analysis of the sample was carried out using the program software UNPHASED; a subsequent conservative Bonferroni Correction applied for the number of markers investigated to any statistically significant results. In addition the UNPHASED program allows for permutations of the data.
Result Description	two polymorphisms that were significantly associated with ADHD and the STS gene may play a role in susceptibility for ADHD

SNPs reported by this study (count: 7)

SNP	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
rs12861247			TDT P-value=0.0055, OR=2.05; Bonferroni correction P-value=0.0385; P-value=0.015 for males only	remains significant after correction; significantly associat...... remains significant after correction; significantly associated with male probands More...	Significant
rs7058445			TDT P-value=0.32, OR=1.2	not significantly associated not significantly associated	Non-significant
rs5934740			TDT P-value=0.41, OR=1.15	not significantly associated not significantly associated	Non-significant
rs2270112			TDT P-value=0.034, OR=1.48	significantly associated significantly associated	Significant
rs17268988			TDT P-value=0.41, OR=1.18	not significantly associated not significantly associated	Non-significant
rs5933863			TDT P-value=0.28, OR=1.26	not significantly associated not significantly associated	Non-significant
rs4403552			TDT P-value=0.71, OR=1.07	not significantly associated not significantly associated	Non-significant

Genes reported by this study (count: 1)