title: The role of a mineralocorticoid receptor gene functional polymorphism in the symptom dimensions of persistent ADHD.
abstract: Attention-deficit/hyperactivity disorder (ADHD) affects approximately 5 % of school-aged children and 2.5 % of adults. Genetic studies in ADHD have pointed to genes in different neurobiological systems, with relatively small individual effects. 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. These results are consistent with a possible link between genetic variations in the HPA axis and inattention and hyperactivity measures.
authors.affiliation: Departamento de Genética, Instituto de Biociências, UFRGS, Caixa Postal: 15053, Porto Alegre, RS CEP 91501-970, Brazil.
authors.forename: Gustavo Lucena
authors.initials: GL
authors.lastname: Kortmann
authors.forename: Verônica
authors.initials: V
authors.lastname: Contini
authors.forename: Guilherme Pinto
authors.initials: GP
authors.lastname: Bertuzzi
authors.forename: Nina Roth
authors.initials: NR
authors.lastname: Mota
authors.forename: Diego Luiz
authors.initials: DL
authors.lastname: Rovaris
authors.forename: Vanessa Rodrigues
authors.initials: VR
authors.lastname: Paixão-Côrtes
authors.forename: Leandro Leal
authors.initials: LL
authors.lastname: de Lima
authors.forename: Eugenio Horacio
authors.initials: EH
authors.lastname: Grevet
authors.forename: Carlos Alberto Iglesias
authors.initials: CA
authors.lastname: Salgado
authors.forename: Eduardo Schneider
authors.initials: ES
authors.lastname: Vitola
authors.forename: Luis Augusto
authors.initials: LA
authors.lastname: Rohde
authors.forename: Paulo
authors.initials: P
authors.lastname: Belmonte-de-Abreu
authors.forename: Claiton Henrique Dotto
authors.initials: CH
authors.lastname: Bau
mesh_terms: D000328:Adult; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics* / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018161:Receptors, Mineralocorticoid / Q000235:genetics*; D014633:Valine / Q000235:genetics; D055815:Young Adult
chemical_list: C561839:NR3C2 protein, human; D018161:Receptors, Mineralocorticoid; D014633:Valine