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	Spencer, T. J., 201223273726
Citation	Spencer T. J., Biederman J., Faraone S. V., Madras B. K., Bonab A. A., Dougherty D. D., Batchelder H., Clarke A. and Fischman A. J. (2012) "Functional Genomics of Attention-Deficit/Hyperactivity Disorder (ADHD) Risk Alleles on Dopamine Transporter Binding in ADHD and Healthy Control Subjects." Biol Psychiatry.
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	34 patients and 34 controls
Predominant Ethnicity
Gender	23 male patients and 12 male controls
Age Group	Adults : mean age=32.8, SD=9.1 years of patients, mean age=27.7, SD=6.8 years of controls

Detail Info

Summary	Subjects consisted of 68 psychotropic (including stimulant)-naive and smoking-naive volunteers between 18 and 55 years of age (ADHD n = 34; control subjects n = 34). Striatal DAT binding was measured with positron emission tomography with 11C altropane. Genotyping of the two DAT (SLC6A3) 3'-UTR and intron8 VNTRs used standard protocols. The gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups. The ADHD status (t = 2.99; p<.004) and 3'-UTR of SLC6A3 9 repeat carrier status (t = 2.74; p<.008) were independently and additively associated with increased DAT binding in the caudate. The ADHD status was associated with increased striatal (caudate) DAT binding regardless of 3'-UTR genotype, and 3'-UTR genotype was associated with increased striatal (caudate) DAT binding regardless of ADHD status. In contrast, there were no significant associations between polymorphisms of DAT intron8 or the 3'-UTR-intron8 haplotype with DAT binding.
Total Sample	Subjects consisted of 68 volunteers between 18 and 55 years of age with and without ADHD. The subjects with ADHD satisfied full diagnostic criteriaf or DSM-IV ADHD.Control subjects could not have more than two mild symptoms of ADHD and no first degree relative with ADHD.
Sample Collection	Subjects consisted of 68 volunteers between 18 and 55 years of age with and without ADHD.
Diagnosis Description	To have been given a full diagnosis of adult ADHD, the subject must have: 1) met full DSM-IV-R criteria (at least 6 of 9 symptoms) for inattentive and/or hyperactive/impulsive domains by the age of 7 years as well as within the past month; 2) described a chronic course of ADHD symptomatology from childhood to adulthood; and 3)endorsed currently at least moderate level of impairment attributed to the ADHD symptoms.
Technique	genotyping
Analysis Method	Categorical data were analyzed by X2 analysis; continuous parametric data were analyzed by analysis of variance with post hoc pair wise comparisons (Scheffe) or unpaired t test; and the rank sum test was used for nonparametric data. Associations between continuous variables were evaluated with Pearson correlations. We chose a significance level of .05. All tests were two-tailed.
Result Description	The gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups. The ADHD status (t = 2.99; p<.004) and 3'-UTR of SLC6A3 9 repeat carrier status (t = 2.74; p<.008) were independently and additively associated with increased DAT binding in the caudate. The ADHD status was associated with increased striatal (caudate) DAT binding regardless of 3'-UTR genotype, and 3'-UTR genotype was associated with increased striatal (caudate) DAT binding regardless of ADHD status. In contrast, there were no significant associations between polymorphisms of DAT intron8 or the 3'-UTR-intron8 haplotype with DAT binding. The 3'-UTR but not intron8 VNTR genotypes were associated with increased DAT binding in both ADHD patients and healthy control subjects. Both ADHD status and the 3'-UTR polymorphism status had an additive effect on DAT binding. Our findings suggest that an ADHD risk polymorphism (3'-UTR) of SLC6A3 has functional consequences on central nervous system DAT binding in humans.

Other variant reported by this study (count: 5)

Variant Name	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
DRD4 exon3 VNTR		7R	P-value=NS, X²=0.03 P-value=NS, X²=0.03	the gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups.	Non-significant
SLC6A3 3'-UTR VNTR		9R	P-value=NS, X²=0.53 P-value=NS, X²=0.53	the gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups.	Non-significant
5HTTLPR	short/long	long	P-value=NS, X²=0.19 P-value=NS, X²=0.19	the gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups.	Non-significant
SLC6A4 intron2 VNTR		12R	P-value=NS, X²=0.11 P-value=NS, X²=0.11	the gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups.	Non-significant
SLC6A3 intron8 VNTR		6R	P-value=NS, X²=0.13 P-value=NS, X²=0.13	the gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups.	Non-significant

Genes reported by this study (count: 3)

Gene	Statistical Values/Author Comments	Result of Statistical Analysis
DRD4	the gene frequencies of each of the gene polymorphisms asses...... the gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups. More...	Non-significant
SLC6A4	the gene frequencies of each of the gene polymorphisms asses...... the gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups. More...	Non-significant
SLC6A3	the gene frequencies of each of the gene polymorphisms asses...... the gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups. More...	Non-significant