PhD Scientific Days 2022

Mental Health Sciences II. (Poster discussion will take place in the Aula during the Coffee Break)

Genetic association study of cognitive phenotypes of adult attention deficit hyperactivity disorder

Text of the abstract

Introduction: Adult Attention Deficit Hyperactivity Disorder (aADHD) is a moderately heritable (70%) neurodevelopmental disorder that is the most commonly diagnosed childhood mental disorder. According to estimates a third of cases persist into adulthood, and although symptoms begin in childhood, recognitionin adulthood is becoming more common.
Thus genetic factors play significant role in the etology of the disease, the genetic background is still the subject of intensive research. Heterogenous clinical picture of disease (presence of subtypes, comorbidity and drug use) makes phenotypic characterisation more complicated. The study of such complex phenotypes is facilitated by the study of endophenotypes.
Aim: The aim of our study was to investigate the association between the cognitive phenotypes of adult ADHD and the genetic variants of the monoaminergic system.
Methods: Patients with ADHD (N=95) and age-, gender-, and education-matched controls (N=100) were included in the study. The aADHD patients were diagnosed and exained in the ADHD outpatient clinic of the SE Psychiatry and Psychotherapy Department, Semmelweis University. After a written consent, we used 8 tasks of the CANTAB neuropsychological software to characterize the cognitive phenotype, which allowed the study different cognitive areas such as reaction time, working memory, attention, impulsivity, and inhibition. For genetic testing, oral mucosa sample sample was collected which after isolation, was genotyped to functional variants of the following genes: catechol-O-methyltransferase (COMT), monoamine oxidase (MAO-A), dopamine receptor 4 (DRD4), dopamine transporter (DAT ), norepinephrine transporter (NET). GLM analyzes were performed for genetic association analysis.
Results: Our association analyzes confirm the genetic association of the genetic polymorphisms of the monoaminergic system and the symptom dimensions and cognitive abnormalities of ADHD. Our preliminary analyzes showed a significant relationship between the symptom dimension of impulsivity and the NET (rs3785143) gene (0.006).