Eduardo Tarazona‐Santos
A5037498402- Genetic Associations and Epidemiology
- Forensic and Genetic Research
- Race, Genetics, and Society
- Pharmacogenetics and Drug Metabolism
- Genetic diversity and population structure
- Genomic variations and chromosomal abnormalities
- Blood groups and transfusion
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Nutrition, Genetics, and Disease
- Asthma and respiratory diseases
- Malaria Research and Control
- High Altitude and Hypoxia
- Genomics and Phylogenetic Studies
- Genetic and phenotypic traits in livestock
- Genetic Mapping and Diversity in Plants and Animals
- Cardiomyopathy and Myosin Studies
- Helicobacter pylori-related gastroenterology studies
- Gene expression and cancer classification
- Tuberculosis Research and Epidemiology
- Cardiac electrophysiology and arrhythmias
- BRCA gene mutations in cancer
- Bioinformatics and Genomic Networks
- Hemoglobinopathies and Related Disorders
- Mycobacterium research and diagnosis
Universidade Federal de Minas Gerais
2016-2025
Universidad Peruana Cayetano Heredia
2006-2024
PharmacoGenetics (China)
2023
Ibero American University
2023
Genomic (Brazil)
2021-2022
Johns Hopkins University
2021-2022
The Quebec Population Health Research Network
2022
Prisma
2012-2018
University College London
2017
Universidade Federal da Bahia
2015
Significance The EPIGEN Brazil Project is the largest Latin-American initiative to study genomic diversity of admixed populations and its effect on phenotypes. We studied 6,487 Brazilians from three population-based cohorts with different geographic demographic backgrounds. identified ancestry components these at a previously unmatched resolution. broadened our understanding African diaspora, principal destination which was Brazil, by revealing an component that likely derives slave trade...
Abstract As whole-genome sequencing (WGS) becomes the gold standard tool for studying population genomics and medical applications, data on diverse non-European admixed individuals are still scarce. Here, we present a high-coverage WGS dataset of 1,171 highly elderly Brazilians from census-based cohort, providing over 76 million variants, which ~2 absent large public databases. enables identification ~2,000 previously undescribed mobile element insertions without previous description, nearly...
Significance Through the Peruvian Genome Project we generate and analyze genomes of 280 individuals where majority have >90% Native American ancestry explore questions at interface evolutionary genetics, history, anthropology, medicine. This is most extensive sampling high-coverage mestizo whole to date. We estimate an initial peopling Peru was rapid began by 12,000 y ago. In addition, populations exhibit admixture between groups prior their Spanish likely influenced Inca Empire conquest....
Abstract Brazil never had segregation laws defining membership of an ethnoracial group. Thus, the composition Brazilian population is mixed and its classification complex. Previous studies showed conflicting results on correlation between genome ancestry in Brazilians. We used 370,539 Single Nucleotide Polymorphisms to quantify this 5,851 community-dwelling individuals South (Pelotas), Southeast (Bambui) Northeast (Salvador) Brazil. European was predominant Pelotas Bambui (median = 85.3%...
Significance Native Americans are neglected in human genetics studies, despite recent interest the study of ancient DNA their ancestors. Our findings on Andean and Amazonian populations exemplify how current pattern genetic diversity is influenced by interaction history environment. In present case, this 1) altitudinal climatic differences among northern, lower, fertile Andes versus southern, higher, arid 2) sharp between highlands Amazon lowlands, where natural selection other evolutionary...
Abstract Dementia is more prevalent in Blacks than Whites, likely due to a combination of environmental and biological factors. Paradoxically, clinical studies suggest an attenuation APOE ε4 risk dementia African ancestry (AFR), but dearth neuropathological data preclude the interpretation factors underlying these findings, including association between Alzheimer’s disease (AD) pathology, most frequent cause dementia. We investigated interaction ancestry, AD-related neuropathology, genotype...
ABSTRACT The All of Us Research Program ( ) seeks to accelerate biomedical research and address the underrepresentation minorities by recruiting over one million ethnically diverse participants across United States. A key question is how self-identification with discrete, predefined race ethnicity categories compares genetic diversity at continental subcontinental levels. To contextualize in , we analyzed ∼2 common variants from 230,016 unrelated whole genomes using classical population...
We analyzed mtDNA sequence variation in 590 individuals from 18 south Amerindian populations. The spatial pattern of diversity these populations fits well the model proposed on basis Y-chromosome data. found evidence a differential action genetic drift and gene flow western eastern populations, which has led to divergence latter but not former. Although it is possible identify common all South America, when are separately, both regions isolation-by-distance model, suggesting independent...
Blockade of the cytotoxic T lymphocyte-associated antigen 4 (CTLA-4), a down-regulator T-cell activation, can cause cancer regression in patients with metastatic melanoma. However, not all respond well to therapy and some develop severe autoimmune reactions. We hypothesized that common genetic variation CTLA4 gene could contribute response CTLA-4 blockade occurrence investigated 7 single nucleotide polymorphisms, SNPs, (rs733618, rs4553808, rs11571317, rs5742909, rs231775, rs3087243,...
The Transatlantic Slave Trade transported more than 9 million Africans to the Americas between early 16th and mid-19th centuries. We performed a genome-wide analysis using 6,267 individuals from 25 populations infer how different African groups contributed North-, South-American, Caribbean populations, in context of geographic geopolitical factors, compared genetic data with demographic history records Trade. observed that West-Central Africa Western Africa-associated ancestry clusters are...
Abstract The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration JT interval, respectively. abnormalities are associated with potentially fatal arrhythmia. Using genome-wide multi-ancestry analyses (>250,000 individuals) we identify 177, 156 121 independent loci for QT, QRS, respectively, including a male-specific X-chromosome locus. gene-based rare-variant methods, associations Mendelian disease...
Abstract European-ancestry populations are recognized as stratified but not admixed, implying that residual confounding by locus-specific ancestry can affect studies of association, polygenic adaptation, and risk scores. We integrate individual-level genome-wide data from ~19,000 individuals across 79 European five American cohorts. generate a new reference panel captures ancestral diversity missed both the 1000 Genomes Human Genome Diversity Projects. Both Europeans Americans admixed at...
Beta-defensins are a family of multifunctional genes with roles in defense against pathogens, reproduction, and pigmentation. In humans, six beta-defensin clustered repeated region which is copy-number variable (CNV) as block, diploid copy number between 1 12. The role host makes the evolutionary history this CNV particularly interesting, because morbidity due to infectious disease likely have been an important selective force human evolution, varied geographical locations. Here, we show...
We present the distribution of CYP 2D6 , 2C9 and 2C19 variants predicted phenotypes in 33 native admixed populations from Ibero‐America ( n > 6,000) context genetic ancestry = 3,387). Continental ancestries are major determinants frequencies increased‐activity allele 2C19*17 gUM s (negatively associated with Native American ancestry), decreased‐activity alleles 2D6*41 2C9*2 (positively European 2D6*17 2D6*29 African ancestry). For rare alleles, CYPC 19*17 admixture accounts for their...
Pharmacogenetic variation in Latin Americans is understudied, which sets a barrier for the goal of global precision medicine. The RIBEF-CEIBA Network Consortium was established to characterize interindividual and between population variations CYP2D6, CYP2C9, CYP2C19 drug metabolizing enzyme genotypes, were subsequently utilized catalog their "predicted metabolism phenotypes" across Native American Ibero populations. Importantly, we report this study, total 6060 healthy individuals from...
Abstract Background Sex differences in Parkinson's disease (PD) risk are well‐known. However, the role of sex chromosomes development and progression PD is still unclear. Objective The objective this study was to perform first X‐chromosome–wide association for a Latin American cohort. Methods We used data from three admixed cohorts: (1) Research consortium on Genetics Disease (n = 1504) as discover cohort, (2) Latino cohort International Parkinson Genomics Consortium 155) (3) Bambui Aging...
A sample of 141 Quechua-speaking individuals the population Tayacaja, in Peruvian Central Andes, was typed for following 16 genetic systems: ABO, Rh, MNSs, P, Duffy, AcP1, EsD, GLOI, PGM1, AK, 6-PGD, Hp, Gc, Pi, C3, and Bf. The structure analyzed relation to allele frequencies available other South Amerindian populations, using a combination multivariate multivariable techniques. Spatial autocorrelation analysis performed independently 13 alleles identify patterns gene flow America as whole...
Abstract Background Targeted re-sequencing is one of the most powerful and widely used strategies for population genetics studies because it allows an unbiased screening variation that suitable a wide variety organisms. Examples require data are evolutionary inferences, epidemiological designed to capture rare polymorphisms responsible complex traits screenings mutations in families small populations with high incidences specific genetic diseases. Despite advent next-generation sequencing...