Purpose Of Review: Accurate inference of genetic ancestry is critical because common diseases and drug responses can be influenced by genetic factors that vary in frequency or differ altogether among populations. Frequently, clinicians and researchers use popular notions of race to make inferences about a child's genetic ancestry and predict whether he or she carries specific risk factors that influence health. The extent to which race is useful for making such predictions depends on how well race corresponds with genetic inferences of ancestry and whether ancestry is predictive of genotypes associated with risk.
Recent Findings: Recent studies of human population genetic variation show that while race captures some information about genetic ancestry, particularly in US populations, it often fails to account for admixture and population structure. Ancestry is more accurately inferred by geographical origin or, better yet, explicit genetic data. This is an important result because the genetic variants predicted to underlie common disease are often not common across populations with different ancestry or differ significantly in frequency among such populations.
Summary: Geographical origin and explicit genetic data are more accurate predictors of ancestry than race. Using such alternatives is an important step toward identifying genetic risk variants for common pediatric diseases and personalizing disease prevention and intervention strategies.
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http://dx.doi.org/10.1097/MOP.0b013e3282f163ca | DOI Listing |
Epigenetics
December 2025
Survey Research Center, Institute for Social Research, University of Michigan, Ann Arbor, MI, USA.
Perceived discrimination, recognized as a chronic psychosocial stressor, has adverse consequences on health. DNA methylation (DNAm) may be a potential mechanism by which stressors get embedded into the human body at the molecular level and subsequently affect health outcomes. However, relatively little is known about the effects of perceived discrimination on DNAm.
View Article and Find Full Text PDFBreast Cancer Res
January 2025
Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, 246 Clayton Road, Clayton, VIC, 3168, Australia.
Background: Tumour DNA methylation has been investigated as a potential marker for breast cancer survival, but findings often lack replication across studies.
Methods: This study sought to replicate previously reported associations for individual CpG sites and multi-CpG signatures using an Australian sample of 425 women with breast cancer from the Melbourne Collaborative Cohort Study (MCCS). Candidate methylation sites (N = 22) and signatures (N = 3) potentially associated with breast cancer survival were identified from five prior studies that used The Cancer Genome Atlas (TCGA) methylation dataset, which shares key characteristics with the MCCS: comparable sample size, tissue type (formalin-fixed paraffin-embedded; FFPE), technology (Illumina HumanMethylation450 array), and participant characteristics (age, ancestry, and disease subtype and severity).
Sci Rep
January 2025
Sexually Transmitted and Bloodborne Infections Surveillance and Molecular Epidemiology, Sexually Transmitted and Bloodborne Infections Division at the JC Wilt Infectious Diseases Research Centre, National Microbiology Laboratories, Public Health Agency of Canada, Winnipeg, MB, R3E 3L5, Canada.
Human Immunodeficiency Virus Type 1 (HIV) set-point viral load is a strong predictor of disease progression and transmission risk. A recent genome-wide association study in individuals of African ancestries identified a region on chromosome 1 significantly associated with decreased HIV set-point viral load. Knockout of the closest gene, CHD1L, enhanced HIV replication in vitro in myeloid cells.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Human Medical Genetics and Genomics Program, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Mathematical and Statistical Sciences, University of Colorado Denver, Denver, CO 80204, USA; Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA. Electronic address:
Genetic summary data are broadly accessible and highly useful, including for risk prediction, causal inference, fine mapping, and incorporation of external controls. However, collapsing individual-level data into summary data, such as allele frequencies, masks intra- and inter-sample heterogeneity, leading to confounding, reduced power, and bias. Ultimately, unaccounted-for substructure limits summary data usability, especially for understudied or admixed populations.
View Article and Find Full Text PDFCancer Epidemiol
January 2025
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Background: The relationship between vitamin D and prostate cancer has primarily been characterized among White men. Black men, however, have higher prostate cancer incidence and mortality rates, chronically low circulating vitamin D levels, and ancestry-specific genetic variants in vitamin D-related genes. Here, we examine critical genes in the vitamin D pathway and prostate cancer risk in Black men.
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