GWAS in the southern African context.

PLoS One

DSI-NRF Centre of Excellence for Biomedical Tuberculosis Research, South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.

Published: September 2022

Researchers would generally adjust for the possible confounding effect of population structure by considering global ancestry proportions or top principle components. Alternatively, researchers would conduct admixture mapping to increase the power to detect variants with an ancestry effect. This is sufficient in simple admixture scenarios, however, populations from southern Africa can be complex multi-way admixed populations. Duan et al. (2018) first described local ancestry adjusted allelic (LAAA) analysis as a robust method for discovering association signals, while producing minimal false positive hits. Their simulation study, however, was limited to a two-way admixed population. Realizing that their findings might not translate to other admixture scenarios, we simulated a three- and five-way admixed population to compare the LAAA model to other models commonly used in genome-wide association studies (GWAS). We found that, given our admixture scenarios, the LAAA model identifies the most causal variants in most of the phenotypes we tested across both the three-way and five-way admixed populations. The LAAA model also produced a high number of false positive hits which was potentially caused by the ancestry effect size that we assumed. Considering the extent to which the various models tested differed in their results and considering that the source of a given association is unknown, we recommend that researchers use multiple GWAS models when analysing populations with complex ancestry.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9518849PMC
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0264657PLOS

Publication Analysis

Top Keywords

admixture scenarios
12
laaa model
12
admixed populations
8
false positive
8
positive hits
8
admixed population
8
five-way admixed
8
ancestry
5
gwas southern
4
southern african
4

Similar Publications

The admixture model is widely applied to estimate and interpret population structure among individuals. Here we consider a "standard admixture" model that assumes the admixed populations are unrelated and also a generalized model, where the admixed populations themselves are related via coancestry (or covariance) of allele frequencies. The generalized model yields a potentially more realistic and substantially more flexible model that we call "super admixture".

View Article and Find Full Text PDF

Mitochondrial function depends on the effective interactions between proteins and RNA encoded by the mitochondrial and nuclear genomes. Evidence suggests that both genomes respond to thermal selection and promote adaptation. However, the contribution of their epistatic interactions to life history phenotypes in the wild remains elusive.

View Article and Find Full Text PDF
Article Synopsis
  • Genomic and ancient DNA data have dramatically changed our understanding of human evolution, particularly with the successful sequencing of Neanderthal and Denisovan genomes.
  • The theory of interbreeding between Neanderthals and Homo sapiens has evolved from skepticism to general acceptance, largely based on statistical models that may overlook the complexities of population structure.
  • Research using simulated data revealed that many existing models inaccurately identified admixture events and emphasized the need to consider population structure for a more accurate understanding of human evolutionary history.
View Article and Find Full Text PDF

Detecting hybridization in Chilean species of the genus Baccharis L.

Plant Biol (Stuttg)

December 2024

Systematic Botany with Herbarium Haussknecht and Botanical Garden, Institute of Ecology and Evolution, Faculty of Biological Sciences, Friedrich-Schiller-Universität, Jena, Germany.

The genus Baccharis in Chile is an extraordinary example of admixture, previously described only morphologically and chemically. In Chile, the genus forms a homoploid complex with at least 16 species and 21 hybrids. Genotyping-by-Sequencing (GBS) was used to clarify the hybrid character of Baccharis × intermedia, which originated from the species B.

View Article and Find Full Text PDF

Population genomics advances in frontier ethnic minorities in China.

Sci China Life Sci

December 2024

Center for Evolutionary Biology, School of Life Sciences, Fudan University, Shanghai, 200438, China.

China, with its large geographic span, possesses rich genetic diversity across vast frontier regions in addition to the Han Chinese majority. Importantly, demographic events and various natural and cultural environments in Chinese frontier regions have shaped the genomic diversity of ethnic minorities via local adaptations. Thus, insights into the genetic diversity and adaptive evolution of these under-represented ethnic groups are crucial for understanding evolutionary scenarios and biomedical implications in East Asian populations.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!