A5002655072- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Forensic and Genetic Research
- Genetic diversity and population structure
- SARS-CoV-2 and COVID-19 Research
- Genetic and phenotypic traits in livestock
- DNA Repair Mechanisms
- Epigenetics and DNA Methylation
- Fish biology, ecology, and behavior
- Indigenous Health and Education
- RNA modifications and cancer
- Bayesian Methods and Mixture Models
- COVID-19 Clinical Research Studies
- Connective tissue disorders research
- Genomics and Rare Diseases
- Banana Cultivation and Research
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Hearing, Cochlea, Tinnitus, Genetics
- Genetic and Kidney Cyst Diseases
- BRCA gene mutations in cancer
- Genetics and Neurodevelopmental Disorders
- Statistical Methods and Bayesian Inference
- MicroRNA in disease regulation
- Aortic aneurysm repair treatments
Universidade de São Paulo
2014-2024
Genomic (Brazil)
2024
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...
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 Sambaqui (shellmound) societies are among the most intriguing archaeological phenomena in pre-colonial South America, extending from approximately 8,000 to 1,000 years before present (yr bp ) across 3,000 km on Atlantic coast. However, little is known about their connection early Holocene hunter-gatherers, how this may have contributed different historical pathways and processes through which late ceramists came rule coast shortly European contact. To contribute our understanding of...
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...
The analysis of genomic data (~400,000 autosomal SNPs) enabled the reliable estimation inbreeding levels in a sample 541 individuals sampled from highly admixed Brazilian population isolate (an African-derived quilombo State São Paulo). To achieve this, different methods were applied to joint information two sets markers (one complete and another excluding loci patent linkage disequilibrium). This strategy allowed detection exclusion that biased average coefficient (Wright’s fixation index...
This article deals with a Windows (© Microsoft Inc.) executable, user-friendly program that tests the hypothesis of Hardy-Weinberg (HW) proportions from autosomal multiallelic data using different methods include parametric, nonparametric and exact bootstrap tests, latter obtained through computer simulations. The can be free charge directly internet repository https://github.com/Lemes-RenanB/HardyWeinbergTesting.
Hepatoblastomas exhibit the lowest mutational burden among pediatric tumors. We previously showed that epigenetic disruption is crucial for hepatoblastoma carcinogenesis. Our data revealed hypermethylation of nicotinamide N-methyltransferase, a highly expressed gene in adipocytes and hepatocytes. The expression pattern role N-methyltransferase liver tumors have not yet been explored, this study aimed to evaluate effect hepatoblastomas. evaluated 45 hepatoblastomas 26 non-tumoral samples....
South America is home to one of the most culturally diverse present-day native populations. However, dispersion pattern, genetic substructure, and demographic complexity within are still poorly understood. Based on genome-wide data 58 populations, we provide a comprehensive scenario American indigenous groups considering genomic, environmental, linguistic data. Clear patterns structure were inferred among natives, presenting at least four primary clusters in Amazonian savanna regions three...
This article deals with the estimation of inbreeding and substructure levels in a set 10 (later regrouped as eight) African-derived quilombo communities from Ribeira River Valley southern portion state São Paulo, Brazil. Inbreeding were assessed through F-values estimated direct analysis genealogical data statistical large 30 molecular markers. The population found modest, was degree inbreeding: all considered together, 0.00136 0.00248 when using raw corrected their complete structures,...
The ultrarare hepatoblastoma (HB) is the most common pediatric liver cancer. HB risk related to a few rare syndromes, and molecular bases remain elusive for cases. We investigated burden of damaging germline variants in 30 Brazilian patients with presence additional clinical signs. A high frequency prematurity (20%) birth defects (37%), especially craniofacial (17%, including craniosynostosis) kidney (7%) anomalies, was observed. Putative pathogenic or likely monoallelic mapped 10 cancer...
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...
The mutation age and local ancestry of chromosomal segments harbouring mutations associated with autosomal recessive (AR) disorders in Brazilian admixed populations remain unknown; additionally, inbreeding levels for these affected individuals continue to be estimated based on genealogical information. Here, we calculated using a runs homozygosity approach, infer the origin each containing disorder-causing KLC2, IMPA1, MED25 WNT7A. Genotyped data were generated from 18 patients by AR...
This paper deals with the frequency and structure of first-cousin marriages, by far most important frequent type consanguineous mating in human populations. Based on analysis large amounts data from world literature Brazilian samples recently collected, we suggest some explanations for asymmetry sexes among parental sibs marriages. We also a simple manner to correct method that uses population surnames assess different Wright fixation indexes FIS, FST FIT taking into account not only...
Abstract Motivation This work is motivated by the problem of identifying homozygosity islands on genome individuals in a population. Our method directly tackles issue identification at population level, without need analysing single and then combine results, as made nowadays state-of-the-art approaches. Results We propose regularized offline change-point methods to detect changes parameters multidimensional distribution when we have several aligned, independent samples fixed resolution....
Fibrillin-1 is a pivotal structural component of the kidney’s glomerulus and peritubular tissue. Mutations in fibrillin-1 gene result Marfan syndrome (MFS), an autosomal dominant disease connective Although kidney not considered classically affected organ MFS, several case reports describe glomerular patients. Therefore, this study aimed to characterize mgΔ lpn -mouse model MFS. Affected animals presented significant reduction glomerulus, glomerulus-capillary, urinary space, fibronectin...
Marfan syndrome (MFS) is an autosomal dominant disease affecting cardiovascular, ocular and skeletal systems. It caused by mutations in the fibrillin-1 (FBN1) gene, leading to structural defects of connective tissue increased activation TGF-β. Angiotensin II (ang-II) involved TGF-β activity bone mass regulation. Inhibition signaling blockage ang-II receptor 1 (AT1R) via losartan administration leads improvement cardiovascular pulmonary phenotypes, but has no effect on phenotype...
Available data show that the epidemiological profile of most indigenous Brazilian populations is characterized by coexistence long-standing health problems (high prevalence infectious and parasitic diseases, malnutrition, deficiency such as anemia in children women reproductive age), associated with new problems, especially those related to obesity (hypertension, type 2 diabetes mellitus dyslipidemia). Based on this scenario, study analyzed nutritional adult population seven peoples from...
The COVID-19 pandemic caused a significant loss of human lives and worldwide decline in quality life. Although our understanding the has improved significantly since beginning, natural history its impacts on under-represented populations, such as Indigenous people from America, remain largely unknown. We performed retrospective serological survey with two Brazilian populations (n=624), Tupiniquim Guarani-Mbyá. Samples were collected between September 2020 July 2021: period comprising...
Chronic kidney disease (CKD) has a prevalence of 10% among Brazilians. The presence two risk alleles called G1 and G2 the Apolipoprotein L1 gene (APOL1), which are more frequent in individuals African descent, been associated with CKD, rare people European descent. Here, we evaluated clinical profile genomic ancestry Brazilian affected by CKD control group self-declared black from Southern Brazil.
Abstract Spinocerebellar ataxia types 2 (SCA2) and 3 (SCA3/MJD) are diseases due to dominant unstable expansions of CAG repeats (CAGexp). Age onset symptoms (AO) correlates with the CAGexp length. Repeat instability leads new expansions, important AO anticipations eventual extinction lineages. Because that, compensatory forces expected act on maintenance expanded alleles, but they poorly understood. Here, we described dynamics, adapting a classical equation aiming estimate for how many...
Spinocerebellar ataxia types 2 (SCA2) and 3 (SCA3/MJD) are diseases due to dominant unstable expansions of CAG repeats (CAGexp). Age onset symptoms (AO) correlates with the CAGexp length. Repeat instability leads increases in expanded repeats, important AO anticipations eventual extinction lineages. Because that, compensatory forces expected act on maintenance alleles, but they poorly understood.
Admixed populations have not been examined in detail cancer genetic studies. Here, we inferred the local ancestry of cancer-associated single nucleotide polymorphisms (SNPs) and haplotypes a highly admixed Brazilian population. SNP array was used to genotype 73 unrelated individuals aged 80-102 years. Local inference performed by merging genotyped regions with phase three data from 1000 Genomes Project Consortium using RFmix. The average tract length 9.12-81.71 megabases. Strong linkage...