<p>Latin American populations exhibit high genetic and phenotypic diversity shaped by complex admixture histories, yet remain underrepresented in genomic research. Here, we analyze genome-wide data from 432 urban individuals across 13 regions of Peru, including 346 newly genotyped from the Peruvian Genome Project. We reveal fine-scale population structure and demographic patterns shaped by both ancient and recent events. Indigenous American ancestries in urban individuals trace back to ancient north-south interactions consistent with archaeological records, while admixture events occurring within the last 8–10 generations involved sources already admixed between distinct ancestral lineages. Identity-by-descent analyses reveal sustained gene flow in southern Peru, while effective population size trends highlight demographic stability in Lima over the past 25 generations. Sex-biased admixture patterns suggest Indigenous ancestry contribution preferentially mediated by females. These findings provide a comprehensive understanding of Peru’s genetic heritage, enhancing our understanding of human genetic diversity and historical demographic processes in Latin America.</p>

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Unraveling the genetic landscape and admixture dynamics of urban populations across Peru

  • Victor Borda,
  • Omar Caceres,
  • Cesar Sanchez,
  • Carlos Padilla,
  • Diego Veliz-Otani,
  • Marla Mendes,
  • Carolina Silva-Carvalho,
  • Isabela Alvim,
  • Bradley A. Maron,
  • Mateus H. Gouveia,
  • Eduardo Tarazona-Santos,
  • Heinner Guio,
  • Timothy D. O’Connor

摘要

Latin American populations exhibit high genetic and phenotypic diversity shaped by complex admixture histories, yet remain underrepresented in genomic research. Here, we analyze genome-wide data from 432 urban individuals across 13 regions of Peru, including 346 newly genotyped from the Peruvian Genome Project. We reveal fine-scale population structure and demographic patterns shaped by both ancient and recent events. Indigenous American ancestries in urban individuals trace back to ancient north-south interactions consistent with archaeological records, while admixture events occurring within the last 8–10 generations involved sources already admixed between distinct ancestral lineages. Identity-by-descent analyses reveal sustained gene flow in southern Peru, while effective population size trends highlight demographic stability in Lima over the past 25 generations. Sex-biased admixture patterns suggest Indigenous ancestry contribution preferentially mediated by females. These findings provide a comprehensive understanding of Peru’s genetic heritage, enhancing our understanding of human genetic diversity and historical demographic processes in Latin America.