A5082804991- T-cell and B-cell Immunology
- Genetic Associations and Epidemiology
- SARS-CoV-2 and COVID-19 Research
- COVID-19 Clinical Research Studies
- Forensic and Genetic Research
- Genomics and Rare Diseases
- Genetic diversity and population structure
- Immune Cell Function and Interaction
- Genomic variations and chromosomal abnormalities
- Immune responses and vaccinations
- Race, Genetics, and Society
- Immunodeficiency and Autoimmune Disorders
- Cholinesterase and Neurodegenerative Diseases
- Blood groups and transfusion
- Genetic and phenotypic traits in livestock
- Renal Diseases and Glomerulopathies
- Hematopoietic Stem Cell Transplantation
- Mast cells and histamine
- Single-cell and spatial transcriptomics
- Renal Transplantation Outcomes and Treatments
- Celiac Disease Research and Management
- Mycobacterium research and diagnosis
- Cancer Genomics and Diagnostics
- Digestive system and related health
- Fish biology, ecology, and behavior
Universidade de São Paulo
2016-2025
Instituto de Geociencias
2024
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2023
Stem Cell Institute
2021
Brazilian Biosciences National Laboratory
2015
Universidade Federal do Paraná
2008
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 Next-generation sequencing (NGS) technologies have become the standard for data generation in studies of population genomics, as 1000 Genomes Project (1000G). However, these techniques are known to be problematic when applied highly polymorphic genomic regions, such human leukocyte antigen (HLA) genes. Because accurate genotype calls and allele frequency estimations crucial genomics analyses, it is important assess reliability NGS data. Here, we evaluate estimates single-nucleotide...
Background Essential hypertension (EH) is a global health issue. Despite extensive research, much of EH heritability remains unexplained. We investigated the genetic basis in African‐derived individuals from partially isolated quilombo populations Vale do Ribeira (São Paulo, Brazil). Methods and Results Samples 431 (167 affected, 261 unaffected, 3 unknown) were genotyped using 650 000 single‐nucleotide polymorphism array. Estimated ancestry proportions 47% African, 36% European, 16% Native...
The origin of syphilis is still controversial. Different research avenues explore its fascinating history. Here we employed a new integrative approach, where paleopathology and molecular analyses are combined. As an exercise to test the validity this approach examined different hypotheses on other human diseases caused by treponemes (treponematoses). Initially, constructed worldwide map containing all accessible reports palaeopathological evidences treponematoses before Columbus's return...
Significance There is much interest in understanding the role of natural selection shaping physiological adaptations to climate, diet, and diseases humans. We investigated this issue by analyzing genomic data from Native American populations inhabiting different ecological regions ancient Americans. found signals at fatty acid desaturases ( FADS ) genes not only an Arctic population, as was previously found, but throughout Americas, suggesting a single strong adaptive event that occurred...
Despite the high number of individuals infected by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who develop disease 2019 (COVID-19) symptoms worldwide, many exposed remain asymptomatic and/or uninfected and seronegative. This could be explained a combination environmental (exposure), immunological (previous infection), epigenetic, genetic factors. Aiming to identify factors involved in immune response symptomatic COVID-19 as compared individuals, we analyzed 83 Brazilian...
Biological networks pervade nature. They describe systems throughout all levels of biological organization, from molecules regulating metabolism to species interactions that shape ecosystem dynamics. The network thinking revealed recurrent organizational patterns in complex systems, such as the formation semi-independent groups connected elements (modularity) and non-random distributions among elements. Other structural patterns, nestedness, have been primarily assessed ecological formed by...
Quilombo remnants are relics of communities founded by runaway or abandoned African slaves, but often with subsequent extensive and complex admixture patterns European Native Americans. We combine a genetic study Y-chromosome markers anthropological surveys in order to obtain portrait quilombo structure history the region that has largest number state São Paulo.Samples from 289 individuals were genotyped using set 17 microsatellites on Y chromosome (AmpFlSTR-Yfiler). A subset 82 samples was...
In the 15th century, ∼900,000 Native Americans, mostly Tupí speakers, lived on Brazilian coast. By end of 18th coastal native populations were declared extinct. The arrived east coast after leaving Amazonian basin ∼2,000 y before present; however, there is no consensus how this migration occurred: toward northern Amazon and then directly to Atlantic coast, or heading south into continent migrating Here we leveraged genomic data from one last remaining putative representatives branch, a...
In his 1972 paper 'The apportionment of human diversity', Lewontin showed that, when averaged over loci, genetic diversity is predominantly attributable to differences among individuals within populations. However, selection can alter the specific genes or genomic regions. We examine at leucocyte antigen (HLA) located major histocompatibility complex (MHC) region. HLA code for proteins that are critical adaptive immunity and well-documented targets balancing selection. The single-nucleotide...
Ecological conditions in the Amazon rainforests are historically favorable for transmission of numerous tropical diseases, especially vector-borne diseases. The high diversity pathogens likely contributes to strong selective pressures human survival and reproduction this region. However, genetic basis adaptation complex ecosystem remains unclear. This study investigates possible footprints rainforest environment by analyzing genomic data 19 native populations. results based on functional...
O manejo de vias aéreas anatomicamente e fisiologicamente difíceis é um desafio significativo em emergências, particularmente pacientes com dispositivos como a cânula Montgomery. Trata-se, então, estudo qualitativo, do tipo relato caso, que descreve abordagem paciente admitido insuficiência respiratória grave, hipercapnia acidose respiratória, no Extremo Sul da Bahia. A intubação orotraqueal acordada foi realizada videolaringoscopia, seguida broncoscopia emergencial, identificou tratou...
While genetic studies have provided insights into essential hypertension (EH, defined by high blood pressure ≥140/90 mmHg), investigation through epigenetics may address gaps in understanding its heritability. This study focused on African Brazilian populations Vale do Ribeira River region, due to their prevalence. We aimed determine if DNA methylation is linked susceptibility, a genome-wide evaluation of 80 peripheral samples from normotensive (39) and hypertensive (41) individuals, with...
Primates have been evolving for over 50 million years. At some point, humans made an unusually large evolutionary leap, giving rise to abilities like the creation of tools, intricate art and complex language. The neuronal synapse, a key player in information processing brain plasticity, has largely ignored as potential factor this process. Here we used genomic databases ancestral hominins compare expression levels 995 genes expressed human nervous system among archaic (6 Neanderthal, 2...
Brazil, the largest Latin American country, is underrepresented in genomic research despite boasting world's recently admixed population. In this study, we generated 2723 high-coverage whole-genome sequences from Brazilian population, including urban, rural, and riverine communities representing diverse ethnic backgrounds. We reveal impressive diversity of Brazilians, identifying >8 million previously unknown variants, 36,637 predicted deleterious potentially affecting population health....
The Andean Altiplano has been occupied continuously since the late Pleistocene, ~12,000 years ago, which places natives as one of most ancient populations living at high altitudes. In present study, we analyzed genomic data from Native Americans a long-time altitude and Amazonia Mesoamerica lowland areas. We have identified three new candidate genes - SP100, DUOX2 CLC with evidence positive selection for adaptation in Andeans. These are involved TP53 pathway related to physiological routes...
Populations in sub-Saharan Africa have historically been exposed to intense selection from chronic infection with falciparum malaria. Interestingly, populations the highest malaria intensity can be identified by increased occurrence of endemic Burkitt Lymphoma (eBL), a pediatric cancer that affects exposure, so called "eBL belt" Africa. However, effects exposure and populations' genetic histories remain poorly explored. To determine if historical migrations shaped composition eBL belt...
A match of HLA loci between patients and donors is critical for successful hematopoietic stem cell transplantation. However, the extreme polymorphism – an outcome millions years natural selection reduces chances that two individuals will carry identical combinations multilocus genotypes. Further, variability not homogeneously distributed throughout world: African populations on average have greater than non-Africans, reducing unrelated are identical. Here, we explore how self-identification...
ABSTRACT Background Clinical recurrence of COVID-19 in convalescent patients has been reported, which immune mechanisms have not thoroughly investigated. Presence neutralizing antibodies suggests other types response are involved. Methods We assessed the innate type I/III IFN response, T cell responses to SARS-CoV-2 with IFNγ ELISPOT, binding and antibody assays, two monozygotic twin pairs one case. Results In pair 1, four months after a first mild episode infection for both siblings,...
Abstract Human pluripotent stem cells (hPSCs) may significantly improve drug development pipeline, serving as an in vitro system for the identification of novel leads, and testing toxicity. Furthermore, these be used to address issue differential response, a phenomenon greatly influenced by genetic factors. This application depends on availability hPSC lines from populations with diverse ancestries. So far, it has been reported that most hPSCs derived worldwide are European or East Asian We...
Although aging correlates with a worse prognosis for Covid-19, super elderly still unvaccinated individuals presenting mild or no symptoms have been reported worldwide. Most of the genetic variants responsible increased disease susceptibility are associated immune response, involving type I IFN immunity and modulation; HLA cluster genes; inflammasome activation; genes interleukins; chemokines receptors. On other hand, little is known about resistance mechanisms against SARS-CoV-2 infection....