ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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	Kortmann, G. L., 201222584804
Citation	Kortmann G. L., Contini V., Bertuzzi G. P., Mota N. R., Rovaris D. L., Paixao-Cortes V. R., de Lima L. L., Grevet E. H., Salgado C. A., Vitola E. S., Rohde L. A., Belmonte-de-Abreu P. and Bau C. H. (2012) "The role of a mineralocorticoid receptor gene functional polymorphism in the symptom dimensions of persistent ADHD." Eur Arch Psychiatry Clin Neurosci.
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	478 cases and 597 controls
Predominant Ethnicity	Caucasian
Population	Brazilian
Gender	235 (52.3%) male patients and 61 (46.2%) male controls
Age Group	Adults : mean age=33.98 years (SD=11.13) of patients, mean age=30.58 years (SD=9.97) of controls

Detail Info

Summary	The mineralocorticoid receptor is the main receptor involved in the initial triggering of stress response. Therefore, its encoding gene (NR3C2) is a candidate for psychiatric disorder studies, including ADHD, and behavioral phenotypes. There is evidence that the Val allele of the MRI180V polymorphism (rs5522) increases the risk of depression, attention and cognitive deficits. We investigated the possible role of the mineralocorticoid receptor gene in the symptom dimensions and susceptibility to persistent ADHD. We compared genotype and allele frequencies in 478 adult patients with ADHD and 597 controls and symptom dimensions in 449 patients and 132 controls. Diagnoses were based on the DSM-IV criteria. ADHD symptom dimensions were investigated with SNAP-IV for ADHD severity and Barkley scales for severity and impairment. Carriers of the Val allele presented higher inattention, hyperactivity/impulsivity and impairment scores, while genotype and allele frequencies did not differ between patients and controls.
Total Sample	The ADHD sample included 478 adult patients that were recruited consecutively in the ADHD outpatient Program of the Hospital de Clinicas de Porto Alegre (HCPA). The control sample was composed of blood donors (n = 597 for genotype frequencies).
Sample Collection	The ADHD sample included 478 adult patients that were recruited consecutively in the ADHD outpatient Program of the Hospital de Clinicas de Porto Alegre (HCPA). Volunteers were recruited in the same hospital where patients were ascertained.
Diagnosis Description	Diagnoses were based on the DSM-IV criteria. ADHD symptom dimensions were investigated with SNAP-IV for ADHD severity and Barkley scales for severity and impairment.
Technique	The SNP rs5522 in the NR3C2 gene was genotyped applying the TaqMan technology on an ABI7500 system.
Analysis Method	Genotype and allele frequencies were compared between cases and controls by Pearson chi-square tests.
Result Description	Carriers of the Val allele presented higher inattention, hyperactivity/impulsivity and impairment scores, while genotype and allele frequencies did not differ between patients and controls. These results are consistent with a possible link between genetic variations in the HPA axis and inattention and hyperactivity measures.

SNPs reported by this study (count: 1)

Genes reported by this study (count: 1)