Admixture, Genetics and Complex Diseases in Latin Americans and US Hispanics

Autor: Eduardo Tarazona-Santos, Giordano B. Soares-Souza, Victor Borda, Fernanda de Souza Gomes Kehdy
Rok vydání: 2018
Předmět:
Zdroj: Current Genetic Medicine Reports. 6:208-223
ISSN: 2167-4876
Popis: 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. 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. 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.
Databáze: OpenAIRE