What Biobanks Reveal About Ancient Genes in Modern Humans

Abstract: For years, scientists have speculated that genetic changes separating modern humans from Neanderthals may explain differences in brain power, health, and even metabolic conditions like diabetes. Thanks to large-scale biobanks such as the UK Biobank, researchers can now test these evolutionary theories directly in living adults. In this study, scientists examined exome data from over 450,000 individuals to identify rare carriers of archaic protein-altering variants once thought to be “fixed” in modern humans. Surprisingly, many of these ancient variants still exist today quietly carried across diverse ancestries without obvious impacts on health, cognition, or metabolic traits.

The findings highlight an important reality of complex diseases like diabetes: human biology is rarely shaped by single dramatic genetic changes. Even variants previously linked to major brain development effects in lab models showed little influence on real-world traits such as brain structure, education, or overall health. Biobanks make this reality visible, reminding us that evolution, metabolism, and disease risk are driven by subtle, cumulative effects rather than genetic silver bullets. As biobanking grows more diverse and data-rich, it will continue to refine how we understand human evolution, chronic diseases, and the biology that connects them.

Get the full article here: https://pmc.ncbi.nlm.nih.gov/articles/PMC12693971/#sec2

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