Version 1
: Received: 9 June 2018 / Approved: 13 June 2018 / Online: 13 June 2018 (11:17:04 CEST)
How to cite:
Martin, A. R.; Teferra, S.; Möller, M.; Hoal, E. G.; Daly, M. J. The Critical Needs and Challenges for Genetic Architecture Studies in Africa. Preprints2018, 2018060201. https://doi.org/10.20944/preprints201806.0201.v1
Martin, A. R.; Teferra, S.; Möller, M.; Hoal, E. G.; Daly, M. J. The Critical Needs and Challenges for Genetic Architecture Studies in Africa. Preprints 2018, 2018060201. https://doi.org/10.20944/preprints201806.0201.v1
Martin, A. R.; Teferra, S.; Möller, M.; Hoal, E. G.; Daly, M. J. The Critical Needs and Challenges for Genetic Architecture Studies in Africa. Preprints2018, 2018060201. https://doi.org/10.20944/preprints201806.0201.v1
APA Style
Martin, A. R., Teferra, S., Möller, M., Hoal, E. G., & Daly, M. J. (2018). The Critical Needs and Challenges for Genetic Architecture Studies in Africa. Preprints. https://doi.org/10.20944/preprints201806.0201.v1
Chicago/Turabian Style
Martin, A. R., Eileen G. Hoal and Mark J. Daly. 2018 "The Critical Needs and Challenges for Genetic Architecture Studies in Africa" Preprints. https://doi.org/10.20944/preprints201806.0201.v1
Abstract
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 while meaningfully including African investigators, as greater inclusivity and enhanced research capacity affords enormous opportunities to accelerate genomic discoveries that translate more effectively to all populations. We review the advantages and challenges of studying the genetic architecture 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 diversity and heterogeneity in African populations. Consequently, we advocate for methodological development that will accelerate studies important for all populations, especially those currently underrepresented in genetics.
Keywords
genetic architecture; Africa; GWAS; health disparities
Subject
Biology and Life Sciences, Biochemistry and Molecular Biology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
