Genome-wide association studies in Africans and African Americans: Expanding the framework of the genomics of human traits and disease

Emmanuel Peprah, Huichun Xu, Fasil Tekola-Ayele, Charmaine D. Royal

Research output: Contribution to journalReview articlepeer-review


Genomic research is one of the tools for elucidating the pathogenesis of diseases of global health relevance and paving the research dimension to clinical and public health translation. Recent advances in genomic research and technologies have increased our understanding of human diseases, genes associated with these disorders, and the relevant mechanisms. Genome-wide association studies (GWAS) have proliferated since the first studies were published several years ago and have become an important tool in helping researchers comprehend human variation and the role genetic variants play in disease. However, the need to expand the diversity of populations in GWAS has become increasingly apparent as new knowledge is gained about genetic variation. Inclusion of diverse populations in genomic studies is critical to a more complete understanding of human variation and elucidation of the underpinnings of complex diseases. In this review, we summarize the available data on GWAS in recent African ancestry populations within the western hemisphere (i.e. African Americans and peoples of the Caribbean) and continental African populations. Furthermore, we highlight ways in which genomic studies in populations of recent African ancestry have led to advances in the areas of malaria, HIV, prostate cancer, and other diseases. Finally, we discuss the advantages of conducting GWAS in recent African ancestry populations in the context of addressing existing and emerging global health conditions.

Original languageEnglish (US)
Pages (from-to)40-51
Number of pages12
JournalPublic Health Genomics
Issue number1
StatePublished - Jan 12 2015


  • African American
  • African ancestry
  • African populations
  • Genetic conditions
  • Genome-wide association studies
  • Genomics
  • Global health
  • Health

ASJC Scopus subject areas

  • Public Health, Environmental and Occupational Health
  • Genetics(clinical)


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