HLA typing of HLA-A, −B, −C, −DPB1, −DQB1 and −DRB1 loci of 226 individuals from three metropolitan areas in South Africa. Suzuki, A., Baguma, R., Sawry, S., Gill, K., Roux, J. L., Nana, A., Patel, F., Garrett, N., Sigal, A., Moore, P. L, Fairlie, L., Riou, C., Burgers, W. A., & Valley-Omar, Z. Human Immunology, 87(3):111677, Elsevier, mar, 2026. ![HLA typing of HLA-A, −B, −C, −DPB1, −DQB1 and −DRB1 loci of 226 individuals from three metropolitan areas in South Africa [link]](https://bibbase.org/img/filetypes/link.svg "link")
Paper doi abstract bibtex The African continent is regarded as the cradle of modern humans and African genomes contain more genetic variation than those from any other continent, yet only a fraction of the genetic diversity among African individuals has been surveyed1. Here we performed whole-genome sequencing analyses of 426 individuals—comprising 50 ethnolinguistic groups, including previously unsampled populations—to explore the breadth of genomic diversity across Africa. We uncovered more than 3 million previously undescribed variants, most of which were found among individuals from newly sampled ethnolinguistic groups, as well as 62 previously unreported loci that are under strong selection, which were predominantly found in genes that are involved in viral immunity, DNA repair and metabolism. We observed complex patterns of ancestral admixture and putative-damaging and novel variation, both within and between populations, alongside evidence that Zambia was a likely intermediate site along the routes of expansion of Bantu-speaking populations. Pathogenic variants in genes that are currently characterized as medically relevant were uncommon—but in other genes, variants denoted as ‘likely pathogenic' in the ClinVar database were commonly observed. Collectively, these findings refine our current understanding of continental migration, identify gene flow and the response to human disease as strong drivers of genome-level population variation, and underscore the scientific imperative for a broader characterization of the genomic diversity of African individuals to understand human ancestry and improve health.
@article{Suzuki2026,
abstract = {The African continent is regarded as the cradle of modern humans and African genomes contain more genetic variation than those from any other continent, yet only a fraction of the genetic diversity among African individuals has been surveyed1. Here we performed whole-genome sequencing analyses of 426 individuals—comprising 50 ethnolinguistic groups, including previously unsampled populations—to explore the breadth of genomic diversity across Africa. We uncovered more than 3 million previously undescribed variants, most of which were found among individuals from newly sampled ethnolinguistic groups, as well as 62 previously unreported loci that are under strong selection, which were predominantly found in genes that are involved in viral immunity, DNA repair and metabolism. We observed complex patterns of ancestral admixture and putative-damaging and novel variation, both within and between populations, alongside evidence that Zambia was a likely intermediate site along the routes of expansion of Bantu-speaking populations. Pathogenic variants in genes that are currently characterized as medically relevant were uncommon—but in other genes, variants denoted as ‘likely pathogenic' in the ClinVar database were commonly observed. Collectively, these findings refine our current understanding of continental migration, identify gene flow and the response to human disease as strong drivers of genome-level population variation, and underscore the scientific imperative for a broader characterization of the genomic diversity of African individuals to understand human ancestry and improve health.},
author = {Suzuki, Akiko and Baguma, Richard and Sawry, Shobna and Gill, Katherine and Roux, Jean Le and Nana, Anusha and Patel, Faeezah and Garrett, Nigel and Sigal, Alex and Moore, Penny L and Fairlie, Lee and Riou, Catherine and Burgers, Wendy A. and Valley-Omar, Ziyaad},
doi = {10.1016/j.humimm.2026.111677},
issn = {01988859},
journal = {Human Immunology},
keywords = {OA,OA{\_}PMC,disc{\_}fund{\_}ack,original},
mendeley-tags = {OA,OA{\_}PMC,disc{\_}fund{\_}ack,original},
month = {mar},
number = {3},
pages = {111677},
pmid = {41633309},
publisher = {Elsevier},
title = {{HLA typing of HLA-A, −B, −C, −DPB1, −DQB1 and −DRB1 loci of 226 individuals from three metropolitan areas in South Africa}},
url = {https://linkinghub.elsevier.com/retrieve/pii/S0198885926000236},
volume = {87},
year = {2026}
}
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