Background: Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness, and/or inattentiveness.
Aim: To search for possible associations between dopamine receptor D4 (DRD4) and dopamine transponder 1 (DATl) polymorphisms and ADHD in Chilean families.
Material And Methods: We extended a previous family-based discordant sib pair analysis that included 26 cases diagnosed according to DSM-IV criteria and 25 controls (healthy siblings of cases), adding 14 cases and 11 controls.
Results: Both loci, individually classified as homozygotes or heterozygotes for the DRD4 7-repeat and DATl 10-repeat alleles, did not exhibit genotype frequency differences between affected children and their healthy siblings. However, the simultaneous presence of both DRD4 7-repeat heterozygosity and DATl 10 allele homozygosity was significantly higher (22.5%) in cases (40), compared with (2.8%) unaffected siblings (36), with an odds-ratio of 10.16.
Conclusions: The genotype combination DRD4/7 heterozygotes and DAT1/10 homozygotes is a high risk factors in Chilean families for ADHD. Increased density of dopamine transporters in ADHD brains, along with abundance of 7-repeat D4 receptors in prefrontal cortex, which is impaired in ADHD patients, make the observed gene-gene interaction worthy of studies to understand the functional basis of ADHD.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Anthropometric Trajectories in Children Prior to Development of Inflammatory Bowel Disease.
JAMA Netw Open
January 2025
Center for Molecular Prediction of Inflammatory Bowel Disease, Department of Clinical Medicine, Aalborg University, Copenhagen, Denmark.
Importance: Poor nutrition and growth in childhood have short-term and long-term consequences, so understanding the timing of the onset of an impaired nutritional status is crucial for diagnosing and treating inflammatory bowel disease (IBD) at its earliest stage.
Objective: To assess anthropometric trajectories before a pediatric diagnosis of IBD and growth recovery after diagnosis.
Design, Setting, And Participants: This population-based cohort study included children born in Denmark from January 1, 1997, through December 31, 2015, with weight and length or height measurements at birth and at least 1 length or height and weight measurement at school age based on the Danish Medical Birth Register and the Danish National Child Health Register.
The association between the COVID-19 pandemic and interpersonal relationships among youth with a child maltreatment history.
Front Child Adolesc Psychiatry
November 2024
Department of Community Health Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB, Canada.
Introduction: The COVID-19 pandemic had significant impacts on youth health and well-being. Youth with prior inequities, such as those exposed to child maltreatment, may have experienced greater psychosocial challenges and long-term difficulties than their peers, including sustained interpersonal relationships problems. Given the importance of healthy relationships during adolescence and early adulthood, the significant impact the pandemic had on youth, and the potential disproportionate challenges for youth with a child maltreatment history, the purpose of the present study was to better understand changes in relational conflict among youth with and without a child maltreatment history from the perspectives of youth themselves.
View Article and Find Full Text PDFBone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.
Commun Med (Lond)
January 2025
Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.
View Article and Find Full Text PDFInvestigating the Risk Factors Associated with Type 1 Diabetes (T1D) in the South of Iran: A Casecontrol Study.
Curr Diabetes Rev
January 2025
Assistant Professor, Department of Public Health, School of Health, Jiroft University of Medical Sciences, Jiroft, Iran.
Background: Type 1 diabetes (T1D) is an autoimmune disorder characterized by a complex interplay of genetic and environmental factors.
Aim: The objective of this study was to identify the risk factors associated with T1D in the southern region of Iran during the year 2022.
Methods: This research employed a case-control design involving two groups (79 individuals in each group) of healthy children and adolescents diagnosed with T1D.
Aberrant controllability of functional connectome during working memory tasks in patients with schizophrenia and unaffected siblings.
Br J Psychiatry
January 2025
Douglas Mental Health University Institute, Department of Psychiatry, McGill University, Montreal, Canada.
Background: Working memory deficit, a key feature of schizophrenia, is a heritable trait shared with unaffected siblings. It can be attributed to dysregulation in transitions from one brain state to another.
Aims: Using network control theory, we evaluate if defective brain state transitions underlie working memory deficits in schizophrenia.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!