Transmissible liability index (TLI), developed employing a high-risk design and item response theory, enables quantification of the latent trait of liability to drug use disorders (DUD) in children. TLI has been shown to have high heritability and predict DUD in young adulthood. This study extends prior research and determines the genetic contribution of DUD liability measured by TLI to adult liability as indexed by DUD diagnosis. The study utilizes data from a twin sample tracked from age 11 to age 25. In addition to confirming TLI's high heritability and predictive validity, it shows that the genetic component of variance in TLI assessed in childhood accounts for over half of the genetic variance in DUD diagnosis and the entire phenotypic relationship between the two liability measures. This validates TLI as an early measure of DUD liability and supports its utility in early-age genetic and other mechanistic studies of DUD.
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http://dx.doi.org/10.1007/s10519-014-9684-4 | DOI Listing |
Orphanet J Rare Dis
January 2025
Department of Social Work, Child Welfare and Social Policy, Faculty of Social Science, Oslo Metropolitan University, Oslo, Norway.
Introduction: The purpose of this study was to investigate perceptions and opinions on what constitutes determinants for quality of life (QoL) in individuals with syndromic Heritable Aortic Disease (sHTAD), utilizing a qualitative study approach. Further to discuss clinical implications and direction for research.
Method: A qualitative focus group interview study was conducted of 47 adults (Marfan syndrome (MFS) = 14, Loeys-Dietz syndrome (LDS) = 11, vascular Ehlers Danlos syndrome (EDS) = 11, relatives = 11).
Anal Chim Acta
January 2025
Department of Chemistry, University of Nebraska-Lincoln, Lincoln, NE, USA. Electronic address:
Background: DJ-1 is a protein whose mutation causes rare heritable forms of Parkinson's disease (PD) and is of interest as a target for treating PD and other disorders. This work used high performance affinity microcolumns to screen and examine the binding of small molecules to DJ-1, as could be used to develop new therapeutics or to study the role of DJ-1 in PD. Non-covalent entrapment was used to place microgram quantities of DJ-1 in an unmodified form within microcolumns, which were then used in multiple studies to analyze binding by model compounds and possible drug candidates to DJ-1.
View Article and Find Full Text PDFTheor Appl Genet
January 2025
Center for Quantitative Genetics and Genomics, Aarhus University, Aarhus C, Denmark.
Genetic variation for malting quality as well as metabolomic and near-infrared features was identified. However, metabolomic and near-infrared features as additional omics-information did not improve accuracy of predicted breeding values. Significant attention has recently been given to the potential benefits of metabolomics and near-infrared spectroscopy technologies for enhancing genetic evaluation in breeding programs.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.
Background: Plasma biomarkers may be a non-invasive and cost-effective tool for diagnosing Alzheimer's Disease. Promising markers include amyloid-β-42/40 ratio (Aβ-42/40), glial fibrillary acidic protein (GFAP), and neurofilament-light (NfL). Not much is known about what genetic and environmental factors influence and potentially confound these biomarker levels.
View Article and Find Full Text PDFBackground: Studies have shown physical activity (PA) patterns are heritable traits and are correlated with several known genetic risk factors including APOE, the best-known gene associated with Alzheimer's Disease (AD). SPARE-AD was a previously developed machine learning index known to be sensitive to AD-like brain atrophy. However, the relationship between genetic variants, physical activity patterns and AD-related neuroimaging features have yet been extensively studied due to the lack of appropriate data and statistical methods for handling complex multimodal data.
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