For many phenotypes, individual scores are obtained as the parameter estimates of person-level models fit to intensive repeated measures from physiological sensors or experience sampling studies. Biometrical genetic analysis of such phenotypes is often done in a 2-step sequence: first the phenotypic parameters are estimated for each individual, then classical twin modeling is used to partition their variance. This study demonstrates deficiencies in accuracy and statistical power of the two-step approach to estimate genetic signals and advocates for the use of hierarchical models to overcome both problems. Simulations are used to demonstrate the benefits to accuracy and statistical power from a hierarchical modeling approach. A model of heart rate fluctuations was applied to experimental data from twin pairs recorded in independent trials. Results of the data application reveal moderate but uncorrelated heritabilities for two parameters of heart rate: oscillation frequency and damping ratio. By merging biometrical genetic analysis with process models, hierarchical mixed-effects modeling has potential to assist with discovery and extraction of novel phenotypes from within-person data and to validate theoretical models of within-person processes.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/s10519-021-10060-0 | DOI Listing |
J Immunother Cancer
January 2025
Medical Oncology, Sarah Cannon Research Institute, Nashville, Tennessee, USA.
Background: SL-172154 is a hexameric fusion protein adjoining the extracellular domain of SIRPα to the extracellular domain of CD40L via an inert IgG-derived Fc domain. In preclinical studies, a murine equivalent SIRPα-Fc-CD40L fusion protein provided superior antitumor immunity in comparison to CD47- and CD40-targeted antibodies. A first-in-human phase I trial of SL-172154 was conducted in patients with platinum-resistant ovarian cancer.
View Article and Find Full Text PDFAm J Case Rep
January 2025
Research Institute of Dentistry, Department of Integral Dental Clinics, University Center of Health Sciences, Universidad de Guadalajara, Guadalajara, Mexico.
BACKGROUND Cowden syndrome is a genetic disorder that predisposes individuals to cancer and is characterized by hamartomas derived from 3 germ layers. Although the clinical signs can be pathognomonic, diagnosis is often aided by biopsies, histopathological examination of oral and cutaneous lesions, and genetic studies, including multiple ligation-dependent probe amplification (MLPA). CASE REPORT We report a case of a 35-year-old woman who manifested with multiple lesions in the buccal mucosa, dorsum of the tongue, and gums, along with papillomatous papules on her facial skin and the dorsal surfaces of her hands.
View Article and Find Full Text PDFBiometrics
January 2025
Department of Biostatistics, University of Michigan at Ann Arbor, Ann Arbor, MI 48109, United States.
Graphical models are powerful tools to investigate complex dependency structures in high-throughput datasets. However, most existing graphical models make one of two canonical assumptions: (i) a homogeneous graph with a common network for all subjects or (ii) an assumption of normality, especially in the context of Gaussian graphical models. Both assumptions are restrictive and can fail to hold in certain applications such as proteomic networks in cancer.
View Article and Find Full Text PDFEur J Neurol
January 2025
Department of Neurology, RWTH Aachen University, Aachen, Germany.
Background: Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Botany, Physiology and Plant Protection, Faculty of Biotechnology and Horticulture, University of Agriculture in Kraków, 29 Listopada 54, 31-425 Kraków, Poland.
Houtt. is the source of various phenolic compounds: phenolic acids, flawan-3-ols, and stilbenes, with a broad range of biological activity. The rhizome (underground organ of these plants) is abundant in secondary metabolites but, in natural conditions, may accumulate various toxic substances (such as heavy metals) from the soil.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!