Study Report

Basic Info
Reference |
Niederhofer H, 200819043512
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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.
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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
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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 |
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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...
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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
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DRD4 exon3 VNTR |
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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...
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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
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Genes reported by this study (count: 2)
Gene |
Statistical Values/Author Comments |
Result of Statistical Analysis |
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...
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Non-significant
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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...
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Non-significant
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