Article
Admixture, Genetics and Complex Diseases in Latin Americans and US Hispanics
Registro en:
SOUZA, Giordano Soares; et al. Admixture, Genetics and Complex Diseases in Latin Americans and US Hispanics. Current Genetic Medicine Reports, v.6, p.208–223, 2018.
2167-4876
10.1007/s40142-018-0151-z
Autor
Souza, Giordano Soares
Borda, Victor
Kehdy, Fernanda
Santos, Eduardo Tarazona
Resumen
Purpose of the Review We review population and epidemiological genetics studies in Latin Americans and US Hispanics/
Latinos, who are product of admixture between Europeans, Africans, and Native Americans.
Recent Findings Admixture studies identified a Southeastern-Africa/Bantu ancestry component more prevalent in Brazil.
Contrasting dynamics of Native American introgression into admixed populations were inferred: > 400 years ago in Brazil,
where Native American populations were decimated afterwards, and concentrated on the last 300 years in Peru, a predominantly
indigenous country. Associations have been reported between phenotypes and individual ancestry, including subcomponents of
Native American ancestry, such as gallbladder cancer with Chilean-Mapuche ancestry and lung function with a west-east
component of Native American ancestry in Mexico. Individuals from Latin America are underrepresented in genome-wide
association studies (GWAS), despite an important increase in their inclusion during the last quinquennium.GWAS and admixture
mapping have found variants associated with anthropometric, cardiovascular, immunological, hematological, neurological, and
endocrine-related traits/diseases, as well as cancer. In the interface between Mendelian diseases and ancestry, a GWAS identified
Venezuelan-specific modifiers of Huntington’s disease onset. The mutational landscape of hereditary breast cancer has been
better characterized. Moreover, next-generation sequencing is allowing the identification of new mutations with different ancestral
origins in different Latin American populations.
Summary The tsunami of new genetic markers and statistical methods allow us to consider three levels of biogeographic ancestry
in Latin Americans: populational, individual, and local chromosome admixture. The challenge is how to integrate these levels of
ancestry to understand the genetic architecture of diseases. 2030-01-01