Auch wenn ich meine, dass das nicht in diesen Thread gehört: ich finde diesen oberflächlichen Umgang mit Populationsgenetik nicht hilfreich. Wenn wir uns fachlich auf ein angemessenes Niveau heben wollen: hier ganz aktuelles Top-Paper aus ‚Science‘ als Beispiel, das zeigt,was diese Disziplin kann … und dabei auch noch Kolonialgeschichte widerspiegelt.
Admixture’s impact on Brazilian population evolution and health | Science
Editor’s summary
Many medically relevant traits, such as drug metabolism, are characterized by some genetic variants having relatively large effects. However, it can be difficult to identify such variants when the genetic variation of a population is not well understood. Nunes et al. generated whole-genome sequence data for 2723 healthy individuals across Brazil, a population characterized by recent and unequal admixture among Indigenous Americans, Europeans, and African enslaved people. They identified nearly 9 million previously unreported genetic variants, including some predicted to negatively affect protein function, and used these data to refine admixture timing estimates. These data represent an important step toward ameliorating the disparities in genomic coverage between populations. —Corinne Simonti
Abstract
Brazil, the largest Latin American country, is underrepresented in genomic research despite boasting the world’s largest recently admixed population. In this study, we generated 2723 high-coverage whole-genome sequences from the Brazilian population, including urban, rural, and riverine communities representing diverse ethnic backgrounds. We reveal the impressive genomic diversity of Brazilians, identifying >8 million previously unknown variants, including 36,637 predicted deleterious and potentially affecting population health. We found a positive correlation between these deleterious variants and ancestry. Brazilian genomes are a global haplotype mosaic shaped by nonrandom mating, with peak admixture in the 18th and 19th centuries. Within this diversity, ancestry-specific haplotypes exhibit an uneven spatiotemporal distribution. We also identified putatively selected genes in this diverse population, primarily linked to fertility, immune response, and metabolic traits.
The European colonization of the Americas initiated the largest intercontinental population displacement in human history. From the 15th to the 20th centuries, ∼5 million Europeans immigrated to Brazil. These European settlers forcibly brought at least 5 million enslaved Africans from different ethnic groups during the first four centuries of colonization (1). At the time of European arrival, the original population living in present-day Brazilian territory consisted of >10 million Indigenous individuals speaking more than a thousand Indigenous languages (2). Contact with European colonizers led to the decimation of the Indigenous population. It is estimated that the effective population size (N e) decline in Brazil ranged between 83% inland and 98% on the Atlantic coast (2). Currently, the Brazilian Indigenous population is divided into four main genetic groups, mainly related to geography but also to linguistic diversity (2). Brazil also has the greatest African diversity found in the Americas, presenting almost all African mitochondrial haplogroups and a great variability of African genetic ancestries (3, 4). There are 56 European languages or dialects officially in use in Brazil today, with German being the second most spoken language (after Portuguese), with 3 million speakers, as of 2022, per IPOL (Instituto de Investigação e Desenvolvimento em Política Linguística), together with 274 Indigenous languages; however, no African language is spoken by the descendants of enslaved individuals, as per IBGE (Instituto Brasileiro de Geografia e Estatística). This demonstrates the cultural richness of the present-day Brazilian population and the impacts of power asymmetry resulting from the colonization period.
However, the genetic heterogeneity resulting from this extensive admixture in Brazil has not been thoroughly characterized. There is a lack of studies investigating the fine-scale population substructure and ancestral sources across the entire country. Existing studies have focused on array data or on specific Brazilian regions (5, 6) and have only broadly characterized the Brazilian population, identifying a limited number of previously unknown variants potentially associated with specific traits in the studied cohorts. Furthermore, no study on natural selection or fine-scale genetic structure based on whole genomes focusing on the Brazilian population has been conducted, leaving a gap in evidence regarding the potential relationships between ancestry, admixture, and relevant medical traits in the Brazilian population.
Conclusions
By leveraging the extensive genetic diversity of the world’s largest admixed population through a comprehensive genomic database spanning diverse Brazilian regions, we have demonstrated that fine-scale demographic analyses play a critical role in unraveling diversity’s complexity and its implications for population health. Our findings underscore the discernible influence of different ancestral backgrounds on Brazilian admixed individuals’ health and genetic makeup. We show that this genetic landscape finds its roots in the evolutionary history of Brazilian Indigenous communities and the intricate demographic interplay stemming from both coerced and voluntary historical immigration to Brazil.
Wenn wir das vertiefen wollen, dann aber bitte unter einem anderen Titelthema