Genetic diversity in populations across Latin America: implications for population and medical genetic studies

Gillian M. Belbin, Maria A. Nieves-Colón, Eimear E. Kenny, Andres Moreno-Estrada, Christopher R. Gignoux

Research output: Contribution to journalReview articlepeer-review

28 Scopus citations


Hispanic/Latino (H/L) populations, although linked by culture and aspects of shared history, reflect the complexity of history and migration influencing the Americas. The original settlement by indigenous Americans, followed by postcolonial admixture from multiple continents, has yielded localized genetic patterns. In addition, numerous H/L populations appear to have signatures of pre-colonization and post-colonization bottlenecks, indicating that tens of millions of H/Ls may harbor signatures of founder effects today. Based on both population and medical genetic findings we highlight the extreme differentiation across the Americas, providing evidence for why H/Ls should not be considered a single population in modern human genetics. We highlight the need for additional sampling of understudied H/L groups, and ramifications of these findings for genomic medicine in one-tenth of the world's population.

Original languageEnglish (US)
Pages (from-to)98-104
Number of pages7
JournalCurrent Opinion in Genetics and Development
StatePublished - Dec 2018
Externally publishedYes

Bibliographical note

Funding Information:
We thank Noah Zaitlen for providing assistance with the initial simulation framework. This work was partially supported by the International Center for Genetic Engineering and Biotechnology (ICGEB) Grant CRP/MEX15-04_EC awarded to A.M.-E.; G.M.B. and E.E.K. were partially supported by NIH U01HG009080 and U01HG007417. C.R.G. and E.E.K. were partially supported by NIH R01HL104608. M.N.-C. was supported by the NSF Social, Behavioral & Economic Sciences Postdoctoral Research Fellowship ( NSF award number 1711982 ).


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