Abstract: While biobanks are traditionally designed to advance precision medicine, a landmark study in The American Journal of Human Genetics proves they are also powerful tools for studying modern human evolution. By analyzing allele frequency shifts across age groups in over 72,000 Han Taiwanese participants, researchers uncovered 168 genetic variants showing clear signs of ongoing natural selection, with roughly 90% being rare variants that standard genomic scans typically miss. These findings demonstrate that human populations are actively evolving, offering critical insights into how selective pressures continue to shape disease susceptibility.
The study revealed complex evolutionary trade-offs across critical DNA repair genes like BRCA1, BRCA2, and MLH1, where purifying and positive selection act side-by-side. Researchers also identified pleiotropic genes such as ATG9A and FADS2 affecting cardiovascular, liver, and kidney functions, alongside 150 red blood cell variants tied to historical malaria adaptation in Taiwan. Applying this age-stratified biobank framework globally will help bridge non-European genomic gaps, transforming how we understand human diversity and disease risk.
Read the full article here: https://www.biocompare.com/Life-Science-News/627060-Large-Biobanks-Reveal-Signs-of-Ongoing-Natural-Selection-in-Humans/