Abstract

The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in history and had a profound impact on genetic diversity in modern populations. To date, the fine-scale population structure of descendants of the African Diaspora remains largely uncharacterized. Here we present genetic variation from deeply sequenced genomes of 642 individuals from North and South American, Caribbean and West African populations, substantially increasing the lexicon of human genomic variation and suggesting much variation remains to be discovered in African-admixed populations in the Americas. We summarize genetic variation in these populations, quantifying the postcolonial sex-biased European gene flow across multiple regions. Moreover, we refine estimates on the burden of deleterious variants carried across populations and how this varies with African ancestry. Our data are an important resource for empowering disease mapping studies in African-admixed individuals and will facilitate gene discovery for diseases disproportionately affecting individuals of African ancestry.

Highlights

  • The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in history and had a profound impact on genetic diversity in modern populations

  • Asthma is a disease of moderate heritability[4,5], yet few loci have been discovered in populations of African descent, and contrasting the study sites yields large sociocultural and environmental heterogeneity that could affect asthma risk

  • A possible limitation in the study design of CAAPA for examining the pattern of deleterious variants is the selection of subjects on the basis of asthma status

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Summary

Introduction

The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in history and had a profound impact on genetic diversity in modern populations. The complexity of colonial history has been highly understudied and homogenized: African Americans and admixed populations in Latin America and the Caribbean are grouped into a single racial construct by the American census, which is often applied in studies of health disparities This fails to capture the distribution of genetic variation among these populations[2]. We sequenced 642 unrelated individuals who self-reported African ancestry from 15 North, Central, and South American and Caribbean populations plus Yoruba-speaking individuals from Ibadan, Nigeria, as part of the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA3) These data substantially increase the lexicon of known human genomic variation and suggest an abundance of variation remains to be discovered with more studies of African-admixed populations in the Americas. Our data will serve as an important resource for empowering disease mapping studies in Africanadmixed individuals and facilitate gene discovery for diseases disproportionately affecting individuals of African ancestry

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