Publications by authors named "Lucas F Pastana"

Coronavirus disease 2019 (COVID-19) is an infection caused by SARS-CoV-2. Genome-wide association studies (GWASs) have suggested a strong association of genetic factors with the severity of the disease. However, many of these studies have been completed in European populations, and little is known about the genetic variability of indigenous peoples' underlying infection by SARS-CoV-2.

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  • Acute lymphoblastic leukemia (ALL) is the most common cancer in children, and certain genetic variants (SNVs) may influence how patients respond to treatment and experience side effects.
  • The study focused on 25 specific SNVs in genes related to microRNA in 77 patients from the Brazilian Amazon, utilizing the TaqMan OpenArray™ Genotyping System for analysis.
  • Results indicated some SNVs increased the risk of neurological and gastrointestinal toxicities, while others provided protection, highlighting the potential to use these genetic markers to better understand and manage treatment-related toxicities in ALL patients.
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The mucin (MUC) family includes several genes aberrantly expressed in multiple carcinomas and mediates diverse pathways essentials for oncogenesis, in both solid and hematological malignancies. Acute Lymphoblastic Leukemia (ALL) can have its course influenced by genetic variants, and it seems more frequent in the Amerindian population, which has been understudied. Therefore, the present work aimed to investigate the MUC family exome in Amerindian individuals from the Brazilian Amazon, in a sample containing healthy Native Americans (NAMs) and indigenous subjects with ALL, comparing the frequency of polymorphisms between these two groups.

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A number of genomic variants related to native American ancestry may be associated with an increased risk of developing Acute Lymphoblastic Leukemia (ALL), which means that Latin American and hispanic populations from the New World may be relatively susceptible to this disease. However, there has not yet been any comprehensive investigation of the variants associated with susceptibility to ALL in traditional Amerindian populations from Brazilian Amazonia. We investigated the exomes of the 18 principal genes associated with susceptibility to ALL in samples of 64 Amerindians from this region, including cancer-free individuals and patients with ALL.

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Prostate cancer (PCa) incidence and mortality vary across territories and populations. This can be explained by the genetic factor of this disease. This article aims to correlate the epidemiological data, worldwide incidence, and mortality of PCa with single-nucleotide polymorphisms (SNPs) associated with the susceptibility and severity of this neoplasm in different populations.

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Background: Prostate cancer represents 3.8% of cancer deaths worldwide. For most prostate cancer cells to grow, androgens need to bind to a cellular protein called the androgen receptor (AR).

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In Brazil, Acute lymphoid leukemia (ALL) is the leading cause of cancer deaths in children and adolescents. Treatment toxicity is one of the reasons for stopping chemotherapy. Amerindian genomic ancestry is an important factor for this event due to fluctuations in frequencies of genetic variants, as in the and genes, which make up the pharmacokinetic and pharmacodynamic pathways of chemotherapy.

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Genetic factors associated with COVID-19 disease outcomes are poorly understood. This study aimed to associate genetic variants in the , , , , , , and genes with the risk of severe forms of COVID-19 in Amazonian Native Americans, and to compare the frequencies with continental populations. The study population was composed of 64 Amerindians from the Amazon region of northern Brazil.

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Genetic variations in have been associated with different pathologies in global literature, but there are no data regarding this gene in Native American populations. The Amazonian Native American populations have lower genetic diversity and are more different from other continental groups. We investigated 18 genetic variants in the gene in Amazonian indigenous and compared our results with the ones found in global populations, which were publicly available in the 1000 Genomes Project, gnmAD and ABraOM databases.

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  • Tuberculosis (TB) is a serious infection caused by the bacterium Mycobacterium tuberculosis (Mtb), with significant health risks linked to genetic differences in individuals.
  • This study focused on examining 26 specific genetic variants (SNPs) to see if they influence the likelihood of developing TB in the Amazon population, involving 178 participants.
  • Findings revealed that certain SNPs are linked to both increased and decreased risks of TB, suggesting a genetic component to how individuals might respond to this infection and potentially aiding in future diagnostic advancements.
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Autism spectrum disorder is a neurodevelopmental disorder, affecting one in 160 children worldwide. The causes of autism are still poorly understood, but research shows the relevance of genetic factors in its pathophysiology, including the , , and genes. Information about the genetic influence on various diseases, including autism, in the Amerindian population from Amazon, is still scarce.

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  • Fluoropyrimidines are commonly used cancer drugs but have significant toxicity, and this study examined genetic variations in patients treated with these drugs in the Brazilian Amazon.
  • The research involved 216 patients with gastrointestinal cancers, analyzing 33 gene polymorphisms and using advanced genotyping technology to assess ancestry and potential toxicity risks.
  • Four specific genetic polymorphisms (in the ABCC4, FPGS, SLC29A1, and MTHFR genes) were identified as significant predictors of toxicity, highlighting the importance of personalized medicine in this unique population.
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  • Acute Lymphoblastic Leukemia (ALL) is the most common cancer in children, and this study looks into genetic variations affecting the microRNAs related to its development in a Brazilian population.
  • The study analyzed 10 genetic polymorphisms in 100 pediatric ALL patients and 180 healthy controls, finding that specific genotypes significantly increased the risk of developing ALL, particularly the rs3746444 and rs3805500 polymorphisms.
  • Results indicate that certain genetic variations can indicate susceptibility to ALL, highlighting their potential use in risk assessment and facilitating a better understanding of the disease's complex causes.
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In recent years, the incidence of tuberculosis (TB) has declined worldwide, although this disease still occurs at relatively high rates in Amerindian populations. This suggests that the genetic ancestry of Amerindians may be an important factor in the development of infections, and may account for at least some of the variation in infection rates in the different populations. The present study investigated the potential influence of Amerindian genetic ancestry on susceptibility to tuberculosis in an Amazon population.

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Introduction: The nudix hydrolase 15 (NUDT15) gene acts in the metabolism of thiopurine, by catabolizing its active metabolite thioguanosine triphosphate into its inactivated form, thioguanosine monophosphate. The frequency of alternative NUDT15 alleles, in particular those that cause a drastic loss of gene function, varies widely among geographically distinct populations. In the general population of northern Brazilian, high toxicity rates (65%) have been recorded in patients treated with the standard protocol for acute lymphoblastic leukemia, which involves thiopurine-based drugs.

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