With the acceptance of the Daubert criteria as the standards for best practice in forensic anthropological research, more emphasis is being placed on the validation of published methods. Methods, both traditional and novel, need to be validated, adjusted, and refined for optimal performance within forensic anthropological analyses. Recently, a custom postcranial database of modern South Africans was created for use in Fordisc 3.1. Classification accuracies of up to 85% for ancestry estimation and 98% for sex estimation were achieved using a multivariate approach. To measure the external validity and report more realistic performance statistics, an independent sample was tested. The postcrania from 180 black, white, and colored South Africans were measured and classified using the custom postcranial database. A decrease in accuracy was observed for both ancestry estimation (79%) and sex estimation (95%) of the validation sample. When incorporating both sex and ancestry simultaneously, the method achieved 70% accuracy, and 79% accuracy when sex-specific ancestry analyses were run. Classification matrices revealed that postcrania were more likely to misclassify as a result of ancestry rather than sex. While both sex and ancestry influence the size of an individual, sex differences are more marked in the postcranial skeleton and are therefore easier to identify. The external validity of the postcranial database was verified and therefore shown to be a useful tool for forensic casework in South Africa. While the classification rates were slightly lower than the original method, this is expected when a method is generalized.
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http://dx.doi.org/10.1007/s00414-018-1865-x | DOI Listing |
Am J Clin Nutr
January 2025
Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada; Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Background: Understanding gene-environment interactions associated with vitamin D status may refine nutrition and public health strategies for vitamin D deficiency. Recent methodological advances have enabled the identification of variance quantitative trait loci (vQTLs) where gene-environment interactions are enriched.
Objectives: To identify vQTLs for serum 25-hydroxy vitamin D (25OHD) concentrations and characterize potential gene-environment interactions of vQTLs.
JCO Precis Oncol
January 2025
Karmanos Cancer Institute and Department of Oncology, Wayne State University School of Medicine, Detroit, MI.
Purpose: Although lung cancer is one of the most common malignancies, the underlying genetics regarding susceptibility remain poorly understood. We characterized the spectrum of pathogenic/likely pathogenic (P/LP) germline variants within DNA damage response (DDR) genes among lung cancer cases and controls in non-Hispanic Whites (NHWs) and African Americans (AAs).
Materials And Methods: Rare, germline variants in 67 DDR genes with evidence of pathogenicity were identified using the ClinVar database.
Elife
January 2025
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, United States.
Apart from ancestry, personal or environmental covariates may contribute to differences in polygenic score (PGS) performance. We analyzed the effects of covariate stratification and interaction on body mass index (BMI) PGS (PGS) across four cohorts of European (N = 491,111) and African (N = 21,612) ancestry. Stratifying on binary covariates and quintiles for continuous covariates, 18/62 covariates had significant and replicable R differences among strata.
View Article and Find Full Text PDFFront Psychol
January 2025
Department of Pediatrics, Geisel School of Medicine at Dartmouth College, Lebanon, NH, United States.
Objective: Problematic media use (PMU) is addiction-like media use. No study has examined if genetic factors for addiction relate to PMU during childhood. This study tested the association between genetic risk factors for addiction and PMU among 9-to-12-year-olds.
View Article and Find Full Text PDFDiabetes Obes Metab
January 2025
School of Health and Wellbeing, University of Glasgow, Glasgow, UK.
Aims: Glucagon-like peptide 1 receptor agonists (GLP1RA), used to treat type 2 diabetes and obesity, have been associated with off-target behavioural effects. We systematically assessed genetic variation in the GLP1R locus for impact on mental ill-health (MIH) and cardiometabolic phenotypes across diverse populations within UK Biobank.
Materials And Methods: All genetic variants with minor allele frequency >1% in the GLP1R locus were investigated for associations with MIH phenotypes and cardiometabolic phenotypes.
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