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	Niederhofer H, 200819043512
Citation	Niederhofer H., Menzel F., Gobel K., Hackenberg B., Richter R., Walter M. H., Gross C., Huber M., Pycha R. and Menzel H. J. (2008) "A preliminary report of the dopamine receptor D(4) and the dopamine transporter 1 gene polymorphism and its association with attention deficit hyperactivity disorder." Neuropsychiatr Dis Treat, 4(4): 701-5.
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	36 trios and 13 pairs
Predominant Ethnicity	Caucasian
Population	Austria, Germany
Gender	43 male, 6 female probands
Age Group	Children/Adolescents : 6-13 mean age: 8.4 (SD=2.2) years

Detail Info

Summary	They performed a family based association study with 36 trios and 19 parent proband pairs. All diagnoses were confirmed by the 'Hypescheme' diagnostic computer program. In this study they did not observe an association of ADHD with DRD4 and DAT1 polymorphism neither by the haplotype relative risk (HRR) method nor by the transmission disequilibrium test (TdT) method. The odds ratio for the DRD4 7-allele was 1.01 and 0.94 for both statistical tests, respectively, and the respective odds ratio for the DAT1 6-allele were 0.91 and 0.88.
Total Sample	They have recruited 43 male and 6 female Caucasian patients (6-13 years, mean 8.4, SD 2.2) in three centres (Innsbruck, Salzburg, and Boblingen) encompassing 36 trios (parents and child) and 13 pairs (one parent and child).
Sample Collection	Patients and their parents were recruited at institutions specialized in diagnosis and treatment of children with ADHD. These institutions were located in Innsbruck and Salzburg, Austria and Boblingen, Germany.
Diagnosis Description	In order to standardize the diagnosis, all patients were evaluated with the 'Hypescheme' program after its release in 2000. Also children with other or no psychiatric disorders were diagnosed with the 'Hypescheme' program to evaluate this program with respect to false-positive results. All children had ADHD according to the DSM-IV criteria. 10 suffered from additional conduct disorders and 5 from learning disorders. Other psychiatric/psychological disorders such as depression or anxiety disorders were defined as exclusion criteria. Diagnosis was confirmed by the 'Hypescheme' program (16 attention deficits, 4 hyperactive, and 29 combined).
Technique	DNA was isolated from 5-10 ml of EDTA-blood. PCR for the DRD4 polymorphism was done according to Nanko and colleagues (1993) with some modification. Dimethylsulfoxide was omitted and we used 'Hot start'-Taq polymerase with Q-solution from Quiagen (Quiagen, Valencia, USA). PCR for the DAT1 polymorphism was performed according to Doucette-Stamm and colleagues (1995).
Analysis Method	For the statistical evaluation of their data they used two different approaches. One was the HRR estimation (Terwilliger and Ott 1992) and the other was the TDT (Ewens et al 1995).
Result Description	In this study they did not observe an association of ADHD with DRD4 and DAT1 polymorphism neither by the haplotype relative risk (HRR) method nor by the transmission disequilibrium test (TdT) method. The odds ratio for the DRD4 7-allele was 1.01 and 0.94 for both statistical tests, respectively, and the respective odds ratio for the DAT1 6-allele were 0.91 and 0.88.

Other variant reported by this study (count: 2)

Variant Name	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
SLC6A3 3'-UTR VNTR		6R	HRR P-value=0.00, OR=1.0, X²=0.00; allelic TDT X<...... HRR P-value=0.00, OR=1.0, X²=0.00; allelic TDT X²=0.00, OR=1.0 in 36 trios. HRR OR=0.91, X²=0.04; allelic X²=0.17, OR=0.88 in 36 trios and 13 duos More...	none of the alleles was significantly associated with ADHD neither by HRR nor TDT; a nonsignificant result was obtained by both HRR and TDT for the risk allele (6R)	Non-significant
DRD4 exon3 VNTR		7R	HRR P-value=0.88, OR=0.93; allelic TDT X²=0.04, O...... HRR P-value=0.88, OR=0.93; allelic TDT X²=0.04, OR=0.92 in 36 trios. HRR P-value=1.0, OD=1.01; allelic X²=0.04, OD=0.94 in 36 trios and 13 duos More...	none of the alleles was significantly associated with ADHD neither by HRR nor TDT; a nonsignificant result was obtained by both HRR and TDT for the risk allele (7R)	Non-significant

Genes reported by this study (count: 2)

Gene	Statistical Values/Author Comments	Result of Statistical Analysis
SLC6A3	they did not observe an association of ADHD with SLC6A3 poly...... they did not observe an association of ADHD with SLC6A3 polymorphism neither by the haplotype relative risk (HRR) method nor by the transmission disequilibrium test (TdT) method. More...	Non-significant
DRD4	they did not observe an association of ADHD with DRD4 polymo...... they did not observe an association of ADHD with DRD4 polymorphism neither by the haplotype relative risk (HRR) method nor by the transmission disequilibrium test (TdT) method. More...	Non-significant