Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate
Open accessAbstract
Attention-deficit/hyperactivity disorder (ADHD) is a heritable, chronic, neurodevelopmental disorder with serious long-term repercussions. Despite being one of the most common cognitive disorders, the clinical diagnosis of ADHD is based on subjective assessments of perceived behaviors. Endophenotypes (neurobiological markers that cosegregate and are associated with an illness) are thought to provide a more powerful and objective framework for revealing the underlying neurobiology than syndromic psychiatric classification. Here, we present the results of applying genetic linkage and association analyses to neuropsychological endophenotypes using microsatellite and single nucleotide polymorphisms. We found several new genetic regions linked and/or associated with these endophenotypes, and others previously associated to ADHD, for example, loci harbored in the LPHN3, FGF1, POLR2A, CHRNA4 and ANKFY1 genes. These findings, when compared with those linked and/or associated to ADHD, suggest that these endophenotypes lie on shared pathways. The genetic information provided by this study offers a novel and complementary method of assessing the genetic causes underpinning the susceptibility to behavioral conditions and may offer new insights on the neurobiology of the disorder.
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Recent studies found new genetic regions associated with ADHD-related endophenotypes, including Latrophilin 3, Fibroblast growth factor 1, and Cholinergic receptor nicotinic alpha 4.
“Several recent studies found new genetic regions associated with ADHD-related endophenotypes, including Latrophilin 3 gene, Fibroblast growth factor 1 gene, Cholinergic receptor, nicotinic, alpha 4, et cetera (Rommelse et al., 2008; Mastronardi et al., 2016).”
From A Review of Heterogeneity in Attention Deficit/Hyperactivity Disorder (ADHD) (2019) · cites this paper as Mastronardi et al., 2016
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- Authors
- Mastronardi, C. A., Pillai, E., Pineda, D. A., Martinez, A. F., Lopera, F., Velez, J. I., Palacio, J. D., Patel, H., Easteal, S., Acosta, M. T., Castellanos, F. X., Muenke, M., & Arcos-Burgos, M.
- Affiliations
- Australian National University (AU)
- Universidad de Antioquia (CO)
- National Institutes of Health (US)
- Nathan Kline Institute for Psychiatric Research (US)
- Corresponding author
- Muenke, M
- ORCID
- Venue
- Molecular Psychiatry
- Published
- 2015-11-24
- Volume
- 21
- Issue
- 10
- Pages
- 1434-1440
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC4879118
- OpenAlex
- W2180751342
- Cited by
- 19
- References
- 34
- Citations by year
- 2024: 1 · 2023: 1 · 2022: 4 · 2021: 4 · 2020: 2 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 2
- FWCI
- 1.35
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Psychiatry (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
- Funders
- Departamento Administrativo de Ciencia, Tecnología e Innovación (COLCIENCIAS)
- Universidad de Antioquia
- National Institutes of Health
- National Human Genome Research Institute (Z01HG000175)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Attention Deficit Hyperactivity Disorder
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- attention deficit hyperactivity disorder, genetic linkage, genetic association, extended pedigrees, multigenerational pedigree, genetic isolate, LPHN3, FGF1, POLR2A, CHRNA4, microsatellite markers, single nucleotide polymorphisms, neurobiology of ADHD
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Attention Deficit Disorder with Hyperactivity, Child, Cognition Disorders, Colombia, Ethnicity, Female, Humans, Genetic Linkage, Male, Middle Aged, Neuropsychological Tests, Pedigree, Microsatellite Repeats, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genetic Association Studies, Endophenotypes
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