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Curr Opin Genet Dev DOI:10.1016/j.gde.2018.08.005

The critical needs and challenges for genetic architecture studies in Africa.

Publication TypeJournal Article
Year of Publication2018
AuthorsMartin, AR, Teferra, S, Möller, M, Hoal, EG, Daly, MJ
JournalCurr Opin Genet Dev
Date Published2018 12
KeywordsAfrica, Blacks, Genetics, Population, Genome, Human, Genome-Wide Association Study, Genomics, Humans, Polymorphism, Single Nucleotide

Human genetic studies have long been vastly Eurocentric, raising a key question about the generalizability of these study findings to other populations. Because humans originated in Africa, these populations retain more genetic diversity, and yet individuals of African descent have been tremendously underrepresented in genetic studies. The diversity in Africa affords ample opportunities to improve fine-mapping resolution for associated loci, discover novel genetic associations with phenotypes, build more generalizable genetic risk prediction models, and better understand the genetic architecture of complex traits and diseases subject to varying environmental pressures. Thus, it is both ethically and scientifically imperative that geneticists globally surmount challenges that have limited progress in African genetic studies to date. Additionally, African investigators need to be meaningfully included, as greater inclusivity and enhanced research capacity afford enormous opportunities to accelerate genomic discoveries that translate more effectively to all populations. We review the advantages, challenges, and examples of genetic architecture studies of complex traits and diseases in Africa. For example, with greater genetic diversity comes greater ancestral heterogeneity; this higher level of understudied diversity can yield novel genetic findings, but some methods that assume homogeneous population structure and work well in European populations may work less well in the presence of greater heterogeneity in African populations. Consequently, we advocate for methodological development that will accelerate studies important for all populations, especially those currently underrepresented in genetics.


Alternate JournalCurr Opin Genet Dev
PubMed ID30240950
PubMed Central IDPMC6494470
Grant ListK99 MH117229 / MH / NIMH NIH HHS / United States