A5046897292- Genetic Associations and Epidemiology
- MicroRNA in disease regulation
- Bioinformatics and Genomic Networks
- Leprosy Research and Treatment
- Gene expression and cancer classification
- Tuberculosis Research and Epidemiology
- Cancer-related molecular mechanisms research
- Genomics and Rare Diseases
- Infectious Diseases and Tuberculosis
- Race, Genetics, and Society
- Alzheimer's disease research and treatments
- RNA modifications and cancer
- Circular RNAs in diseases
- Colorectal Cancer Screening and Detection
- Forensic and Genetic Research
- Gastric Cancer Management and Outcomes
- Genetics, Bioinformatics, and Biomedical Research
- Genomic variations and chromosomal abnormalities
- Pharmacogenetics and Drug Metabolism
- Nutrition, Genetics, and Disease
- BRCA gene mutations in cancer
- Biomedical Text Mining and Ontologies
- Education and Digital Technologies
- AI in cancer detection
- Helicobacter pylori-related gastroenterology studies
Universidade Federal do Pará
2017-2024
Universidad de Huánuco
2024
Universidade Federal do Amazonas
2021
Universidade Federal de Minas Gerais
2015-2020
Universidade do Estado do Pará
2020
PharmacoGenetics (China)
2020
Universidade Federal do Rio Grande do Norte
2018
Universidade Federal de Pernambuco
2013-2015
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...
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...
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...
This pilot study aimed to investigate genetic factors that may have contributed the milder clinical outcomes of COVID-19 in Brazilian indigenous populations. 263 Indigenous from Araweté, Kararaô, Parakanã, Xikrin do Bacajá, Kayapó and Munduruku peoples were analyzed, 55.2% women, ages ranging 10 95 years (average 49.5 ± 20.7). Variants genes involved entry SARS-CoV-2 into host cell (ACE1 rs1799752 I/D, ACE2 rs2285666 C/T, rs73635825 A/G TMPRSS2 rs123297605 C/T), genotyped Amazon, treated...
Abstract Background Mitochondrial participation in tumorigenesis and metastasis has been studied for many years, but several aspects of this mechanism remain unclear, such as the association mitochondrial DNA (mtDNA) with different cancers. Here, based on two independent datasets, we modelled an mtDNA mutation-cancer network by systematic integrative analysis including 37 cancer types to identify variants found common among them. Results Our showed associations between gastric other types,...
Mild cognitive impairment (MCI) and Alzheimer's Disease (AD) are complex diseases with their molecular architecture not elucidated. APOE, Amyloid Beta Precursor Protein (APP), Presenilin-1 (PSEN1) well-known genes associated both MCI AD. Recently, epigenetic alterations dysregulated regulatory elements, such as microRNAs (miRNAs), have been reported neurodegeneration. In this study, differential expression analysis (DEA) was performed for miRNAs based on microarray RNA-Seq data. Global gene...
Abstract Mitochondria are organelles that perform major roles in cellular operation. Thus, alterations mitochondrial genome (mtGenome) may lead to dysfunction and deregulation, influencing carcinogenesis. Gastric cancer (GC) is one of the most incident mortal types Brazil, particularly Amazon region. Here, we sequenced compared whole mtGenome extracted from FFPE tissue samples GC patients (tumor internal control – IC) cancer-free individuals (external EC) this We found 3-fold more variants...
Circular RNAs (circRNAs) are a new class of long noncoding able to perform multiple functions, including sponging microRNAs (miRNAs) and RNA-Binding Proteins (RBPs). They play an important role in gastric carcinogenesis, but its involvement during cancer (GC) development progression not well understood. We gathered miRNA and/or RBPs sponge circRNAs present GC, accessed their biological roles through functional enrichment target genes or ligand RBPs. identified 54 GC that 51 miRNAs 103 Then,...
Genetic and omics analyses frequently require independent observations, which is not guaranteed in real datasets. When relatedness cannot be accounted for, solutions involve removing related individuals (or observations) and, consequently, a reduction of available data. We developed network-based relatedness-pruning method that minimizes dataset while unwanted relationships dataset. It uses node degree centrality metric to identify highly connected nodes individuals) implements heuristics...
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...
Nuclear DNA has been the main source of genome-wide loci association in neurodegenerative diseases, only partially accounting for heritability Alzheimer’s Disease (AD). In this context, mitochondrial (mtDNA) is gaining more attention. Here, we investigated genes and genetic variants that may influence mild cognitive impairment AD, through an integrative analysis including differential gene expression epistasis. We assessed different brain tissues from two public RNA-Seq databases (GEO GTEx)....
Alzheimer's Disease (AD) is an irreversible neurodegenerative disease clinically characterized by the presence of β-amyloid plaques and tau deposits in various regions brain. However, underlying factors that contribute to development AD remain unclear. Recently, fusiform gyrus has been identified as a critical brain region associated with mild cognitive impairment, which may increase risk development. In our study, we performed gene co-expression differential network analyses, well...
Abstract The manifestation of the COVID-19 varies from absence symptoms to Severe Acute Respiratory Syndrome. epidemiological data indicate that infection and mortality rates are greater in European populations comparison with eastern Asians. To test if patterns may be partly determined by human genetic variation, we investigated, exomic databank analyses, variability found TMPRSS2 gene different continents, since this is fundamental virus access into cells. functional variants revealed low...
Abstract Motivation: The 1000 Genomes Project (1KGP) and thousands of Genome-Wide Association Studies (GWAS) performed during the last years have generated an enormous amount information that needs to be integrated better understand genetic architecture complex diseases in different populations. This integration is important areas such as genetics, epidemiology, anthropology, well admixture mapping design GWAS-replications. Network-based approaches explore bases human traits not yet...
Aim: To explore the pharmacogenetic differentiation across Latin American populations, using fixation index statistics (FST). Materials & methods: FST analyses were applied to 1519 markers in 1000 Genomes admixed superpopulation (1KG_AMR) and an Brazilian sample. Results: Allele-specific values for overall cohort point little (average = 0.017); however, moderate (FST 0.05-0.15) was observed 83 markers, while large 0.15-0.25) restricted three markers. Pairwise analysis identified with very...
Aim: Circular RNAs (circRNAs) are dysregulated in complex diseases, so we investigated their global expression profile stroke. Material & methods: Public RNA-Seq data of human ischemic stroke lesion tissues and controls were used to perform the analysis. Target RNA binding proteins microRNAs predicted silico. Functional enrichment analysis was performed infer circRNAs' potential roles. Results: We found that circRNAs potentially involved synaptic components transmission, inflammation ataxia....
The role of regulatory elements such as small ncRNAs and their mechanisms are poorly understood in infectious diseases. Tuberculosis is one the oldest diseases humans it still a challenge to prevent treat. Control infection, well its diagnosis, complex current treatments used linked several side effects. This study aimed identify possible biomarkers for tuberculosis by applying NGS techniques obtain global miRNA expression profiles from 22 blood samples infected patients with (n = 9),...
This study was carried out to investigate the frequency of genetic variants related body mass index (BMI) and type 2 diabetes (T2D) evaluating potential impact risk alleles on susceptibility these disorders in six indigenous peoples from Brazilian Amazon region. The majority Fst values for pairwise population comparisons among groups are low or moderate. people show high differentiation with Africans, Europeans Southeast Asians moderate East Asian American populations, as expected. allelic...
ABSTRACT Background: Some genes associated with immune response have been elucidated in some Andean populations, which may explain part of the system adaptation and pathogen high-altitude residents. We performed differential expression analysis mainly focused on high fold-change between groups those related to system. Methods: a transcriptome Peruvian individuals, primarily from rural areas, genetic backgrounds ancient indigenous people, exposed different living altitudes (high vs low)....
Abstract Leprosy is a chronic bacterial infection mainly caused by Mycobacterium leprae that primarily affects skin and peripheral nerves. Due to its ability absorb carbon from the host cell, bacillus became dependent on energy production, through oxidative phosphorylation. In fact, variations in genes of Complex I phosphorylation encoded mtDNA have been associated with several diseases humans, including infections, which are possible influencers response leprosy. Here, we investigated...
Levodopa-induced dyskinesia (LID) refers to involuntary motor movements of chronic use levodopa in Parkinson's disease (PD) that negatively impact the overall well-being people with this disease. The molecular mechanisms involved LID were investigated through whole-blood transcriptomic analysis for differential gene expression and identification new co-expression networks. We found six differentially expressed genes patients LID, 13 without LID. also identified 12 co-expressed exclusive hub...