ORCID Profile
0000-0001-9452-9244
Current Organisations
Massey University
,
University of Melbourne
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Publisher: Elsevier BV
Date: 06-2020
Publisher: Springer Science and Business Media LLC
Date: 26-02-2021
DOI: 10.1038/S41366-021-00761-1
Abstract: Admixed populations are a resource to study the global genetic architecture of complex phenotypes, which is critical, considering that non-European populations are severely underrepresented in genomic studies. Here, we study the genetic architecture of BMI in children, young adults, and elderly in iduals from the admixed population of Brazil. Leveraging admixture in Brazilians, whose chromosomes are mosaics of fragments of Native American, European, and African origins, we used genome-wide data to perform admixture mapping/fine-mapping of body mass index (BMI) in three Brazilian population-based cohorts from Northeast (Salvador), Southeast (Bambuí), and South (Pelotas). We found significant associations with African-associated alleles in children from Salvador (PALD1 and ZMIZ1 genes), and in young adults from Pelotas (NOD2 and MTUS2 genes). More importantly, in Pelotas, rs114066381, mapped in a potential regulatory region, is significantly associated only in females (p = 2.76e-06). This variant is rare in Europeans but with frequencies of ~3% in West Africa and has a strong female-specific effect (95% CI: 2.32-5.65 kg/m We identified six candidate SNPs associated with BMI. rs114066381 stands out for its high effect that was replicated and its high frequency in women with morbid obesity. We demonstrate how admixed populations are a source of new relevant phenotype-associated genetic variants.
Publisher: Proceedings of the National Academy of Sciences
Date: 04-12-2020
Abstract: Native Americans are neglected in human genetics studies, despite recent interest in the study of ancient DNA of their ancestors. Our findings on Andean and Amazonian populations exemplify how the current pattern of genetic ersity in human populations is influenced by the interaction of history and environment. In the present case, this pattern is influenced by 1) altitudinal and climatic differences among the northern, lower, and fertile Andes versus the southern, higher, and arid Andes and 2) the sharp differences between the Andean highlands and the Amazon lowlands, where natural selection and other evolutionary forces acted for millennia, shaping differences in the frequencies of genetic variants related to immune response, drug response, and cardiovascular and hematological functions.
Publisher: Cold Spring Harbor Laboratory
Date: 31-01-2020
DOI: 10.1101/2020.01.30.916270
Abstract: Western South America was one of the worldwide cradles of civilization. The well known Inca Empire was the tip of the iceberg of a cultural and biological evolutionary process that started 14-11 thousand years ago. Genetic data from 18 Peruvian populations reveal that: (1) The between-population homogenization of the central-southern Andes and its differentiation with respect to Amazonian populations of similar latitudes do not extend northward. Instead, longitudinal gene flow between the northern coast of Peru, Andes and Amazonia accompanied cultural and socioeconomic interactions revealed by archeological studies. This pattern recapitulates the environmental and cultural differentiation between the fertile north, where altitudes are lower and the arid south, where the Andes are higher, acting as a genetic barrier between the sharply different environments of the Andes and Amazonia (2). The genetic homogenization between the populations of the arid Andes is not only due to migration during the Inca Empire or the subsequent colonial period. It started at least during the earlier expansion of the pre-Inca Wari Empire (600-1000 YBP) (3) This demographic history allowed for cases of positive natural selection in the high and arid Andes vs. the low Amazon tropical forest: in the Andes, HAND2-AS1 (heart and neural crest derivatives expressed 2 antisense RNA1, related with cardiovascular function) and DUOX2 (dual oxidase 2, related to thyroid function and innate immunity) genes in the Amazon, the gene encoding for the CD45 protein, essential for antigen recognition by T/B lymphocytes in viral-host interaction, consistent with the host-virus arms race hypothesis.
Publisher: FapUNIFESP (SciELO)
Date: 2021
Location: Brazil
No related grants have been discovered for Isabela Alvim.