A5037387974- Genetic Associations and Epidemiology
- Forensic and Genetic Research
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genomics and Phylogenetic Studies
- Genetic diversity and population structure
- Cancer-related molecular mechanisms research
- Race, Genetics, and Society
- Autoimmune Bullous Skin Diseases
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Immune Response and Inflammation
- MicroRNA in disease regulation
- Renal Diseases and Glomerulopathies
- Genetics and Neurodevelopmental Disorders
- SARS-CoV-2 detection and testing
- BRCA gene mutations in cancer
- Metabolism, Diabetes, and Cancer
- Urticaria and Related Conditions
- Parasites and Host Interactions
- Environmental DNA in Biodiversity Studies
- Cervical Cancer and HPV Research
- Cancer Cells and Metastasis
- Genetic Syndromes and Imprinting
- Bioinformatics and Genomic Networks
- Immune cells in cancer
Instituto de Ensino e Pesquisa Santa Casa
2018-2023
Universidade Federal de Minas Gerais
2011-2022
Universidade Federal da Bahia
2015
Instituto de Saúde
2015
National Institutes of Health
2009-2010
National Cancer Institute
2009-2010
Centro Universitário de Lavras
2008
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...
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%...
Genome-wide association studies (GWAS) have emerged as an important tool for discovering regions of the genome that harbor genetic variants confer risk different types cancers. The success GWAS in last 3 years is due to convergence new technologies can genotype hundreds thousands single-nucleotide polymorphism markers together with comprehensive annotation variation. This approach has provided opportunity scan across a sufficiently large set cases and controls without prior hypotheses search...
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 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...
Cervical cancer (CC) poses a significant burden on individuals in developing regions, exhibiting heterogeneous responses to standard chemoradiation therapy, and contributing substantial mortality rates. Unraveling host immune dynamics holds promise for innovative therapies discovery of clinically relevant biomarkers. We studied prospectively locally advanced CC patients pre-treatment, stratifying them as responders (R) or non-responders (NR). R had increased tumor-infiltrating lymphocytes...
The phagocyte NADPH oxidase catalyzes the reduction of O2 to reactive oxygen species with microbicidal activity. It is composed two membrane-spanning subunits, gp91-phox and p22-phox (encoded by CYBB CYBA, respectively), three cytoplasmic p40-phox, p47-phox, p67-phox NCF4, NCF1, NCF2, respectively). Mutations in any these genes can result chronic granulomatous disease, a primary immunodeficiency characterized recurrent infections. Using evolutionary mapping, we determined that episodes...
Background: Asthma is a chronic disease of the airways and, despite advances in knowledge associated genetic regions recent years, their mechanisms have yet to be explored.Several genome-wide association studies been carried out but none these involved Latin American populations with high level miscegenation, as seen Brazilian population.Methods: 1246 children were recruited from longitudinal cohort study Salvador, Brazil.Asthma symptoms identified accordance an International Study and...
EPIGEN-Brazil is one of the largest Latin American initiatives at interface human genomics, public health, and computational biology. Here, we present two resources to address challenges global dissemination precision medicine development bioinformatics know-how support it. To underrepresentation non-European individuals in genome diversity studies, EPIGEN-5M+1KGP imputation panel-the fusion 1000 Genomes Project (1KGP) Phase 3 panel with haplotypes derived from EPIGEN-5M data set (a product...
Formicidae é um grupo abundante no solo e também largamente distribuído em todos os estratos da vegetação, constituindo-se bom modelo biológico para estudos de estratificação vertical. O objetivo geral do trabalho foi determinar padrões assembléia formigas três verticais (solo, estrato arbustivo arbóreo). Os dados foram coletados Parque Estadual Serra Caldas Novas, uma área cerrado strictu sensu. A coleta realizada utilizando-se armadilhas tipo pitfall. Foram instaladas 11 solo, 17 plantas...
Background Self-rated health (SRH) has strong predictive value for mortality in different contexts and cultures, but there is inconsistent evidence on ethnoracial disparities SRH Latin America, possibly due to the complexity surrounding self-classification. Materials/Methods We used 370,539 Single Nucleotide Polymorphisms (SNPs) examine association between individual genomic proportions of African, European Native American ancestry, self-classification, with baseline 10-year trajectories...
Archaeology reports millenary cultural contacts between Peruvian Coast-Andes and the Amazon Yunga, a rainforest transitional region Andes Lower Amazonia. To clarify relationships biological evolution of these populations, in particular Yungas Andeans, we used DNA-sequence data, model-based Bayesian approach several statistical validations to infer set demographic parameters. We found that genetic diversity Shimaa (an Yunga population) is subset Quechuas from Central-Andes. Using...
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. enabled identifying ~2,000 novel mobile element insertions, nearly 5Mb genomic segments human genome reference, 140...
Pemphigus foliaceus (PF) is an epidermal autoimmune disease, characterized by the presence of autoantibodies against desmosomal protein desmoglein 1. Genetic and environmental factors contribute to PF, a complex disease that endemic in Brazil Colombia neighbouring countries, Tunisia. Long noncoding RNAs (lncRNAs) may participate gene regulation interacting with DNA, proteins other RNAs. Dysregulation lncRNAs has recently been recognized as important coplayer onset or progression diseases. In...
Cervical cancer (CC) represents a major global health issue, particularly impacting women from resource constrained regions worldwide. Treatment refractoriness to standard chemoradiotheraphy has identified stem cells as critical coordinators behind the biological mechanisms of resistance, contributing CC recurrence. In this work, we evaluated differential gene expression in cervical stem-like (CCSC) biomarkers related intrinsic chemoradioresistance CC. A total 31 patients with locally...
CYBB encodes the gp91-phox protein of phagocytic NADPH oxidase; innate immunity-related enzymatic complex responsible for respiratory burst. Mutations in can cause chronic granulomatous disease (CGD), a primary immunodeficiency characterized by ineffective microbicidal activity, which over 150 family-specific mutations have been described. It is also plausible that common SNPs alter expression or function gp91-phox, determining differences susceptibility to disorders such as autoimmune...
Abstract Elucidating the pattern of genetic diversity for non‐European populations is necessary to make benefits human genetics research available individuals from these groups. In era large genomic initiatives, Native American have been neglected, in particular, Quechua, largest South Amerindian group settled along Andes. We characterized a Quechua population global setting, using autosomal noncoding sequences (nine unlinked loci total 16 kb), 351 SNPs and 678 microsatellites tested...
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. enabled identifying 2,000 novel mobile element insertions, nearly 5 Mb genomic segments human genome reference,...
PDE4B (phosphodiesterase-4B) has an important role in cancer and pharmacology of some disorders, such as inflammatory diseases. Remarkably Native Americans, variants are associated with acute lymphoblastic leukemia (ALL) relapse, this gene modulates sensitivity glucocorticoids used ALL chemotherapy. allele rs6683977.G, genomic regions American origin US-Hispanics (admixed among Europeans, Africans), increases relapse risk, contributing to association between ancestry that disappeared...
Abstract Age-related cognitive decline (ACD) is the gradual process of decreasing function over age. Most genetic risk factors for ACD have been identified in European populations and there are no reports admixed Latin American individuals. We performed admixture mapping, genome-wide association analysis (GWAS), fine-mapping to examine associated with 15-year trajectory 1,407 Brazilian older adults, comprising 14,956 Mini-Mental State Examination measures. Participants were enrolled as part...
Glucose is an important source of energy for living organisms. In vertebrates it ingested with the diet and transported into cells by conserved mechanisms molecules, such as trans-membrane Transporters (GLUTs). Members this family have tissue specific expression, biochemical properties physiologic functions that together regulate glucose levels distribution. GLUT4 -coded SLC2A4 (17p13) insulin-sensitive transporter a critical role in homeostasis diabetes pathogenesis, preferentially...