Convergent evolution of complex adaptive traits modulates angiogenesis in high-altitude Andean and Himalayan human populations

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Convergent adaptations represent paradigmatic examples of the capacity of natural selection to influence organisms’ biology. However, the possibility to investigate the genetic determinants underpinning convergent complex adaptive traits has been offered only recently by methods for inferring polygenic adaptations from genomic data. Relying on this approach, we demonstrate how high-altitude Andean human groups experienced pervasive selective events at angiogenic pathways, which resemble those previously attested for Himalayan populations despite partial convergence at the single-gene level was observed. This provides additional evidence for the drivers of convergent evolution of enhanced blood perfusion in populations exposed to hypobaric hypoxia for thousands of years. Combination of selection scans and gene network analyses aimed at detecting genomic signatures of natural selection on multiple loci reveal insights into convergent polygenic adaptations evolved by high-altitude Andean and Himalayan human populations