Publications by authors named "Hadassa C Santos"

Resistant hypertension (RH) is defined as uncontrolled blood pressure despite treatment with three or more antihypertensive medications, including, if tolerated, a diuretic in adequate doses. It has been widely known that race is associated with blood pressure control. However, intense debate persists as to whether this is solely explained by unadjusted socioeconomical variables or genetic variation.

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  • Chemokines are vital for the immune response to viral infections and may influence conditions like HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP).
  • The study examines the impact of Duffy antigen receptor polymorphisms on HTLV-1 proviral load and chemokine levels among asymptomatic carriers, HAM/TSP patients, and seronegative individuals, finding significant differences in IL8 and CCL2 levels but no association with Duffy genotypes.
  • Although the Duffy null genotype is linked to lower CCL2 levels and certain blood cell counts, it does not appear to affect the neurological outcomes of HTLV-1 infections.
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  • * DNA samples from over 1,200 locals and affected families were analyzed, revealing seven families with the mutation and highlighting a minor allelic frequency of 0.29%, which is notably higher compared to other variants.
  • * Genetic analysis confirmed that all heterozygous carriers shared the same haplotype as the homozygous patients, suggesting a founder effect linked to European ancestry for this particular mutation.
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  • The Duffy blood group system is important for transfusion medicine, immunology, and malaria research, but current genotyping methods have limitations and lack widespread data in some areas.
  • A new real-time PCR-based method for genotyping Duffy alleles was developed and tested on blood donors and transfusion-dependent patients in Minas Gerais, Brazil, revealing no key differences in allele frequencies between groups.
  • The study found that while the Fy(a-b+) phenotype was common, the Fy(a-b-) phenotype, linked to African descent, was less frequent among self-identified black individuals, indicating a potential link to malaria susceptibility and blood antigen risks in the region.
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Purpose: Cardiovascular disease (CVD) is a major challenge to global health. The same epidemiological transition scenario is replayed as countries develop, but with variations based on environment, culture and ethnic mixture. The Baependi Heart Study was set up in 2005 to develop a longitudinal family-based cohort study that reflects on some of the genetic and lifestyle-related peculiarities of the Brazilian populations, in order to evaluate genetic and environmental influences on CVD risk factor traits.

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Human pluripotent stem cells (hPSCs) may significantly improve drug development pipeline, serving as an in vitro system for the identification of novel leads, and for testing drug toxicity. Furthermore, these cells may be used to address the issue of differential drug response, a phenomenon greatly influenced by genetic factors. This application depends on the availability of hPSC lines from populations with diverse ancestries.

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  • This study examined the relationship between genetic ancestry, self-identified race, and heart function in patients with chronic heart failure (HF).
  • It involved 362 patients, aged 18 to 80, analyzing their genetic backgrounds and echocardiography results without finding significant differences in heart function based on race.
  • The results indicated that African ancestry was linked to poorer diastolic heart function, while Amerindian ancestry was associated with reduced contractility, while self-declared race did not provide useful insights into heart function profiles.
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Aims: Recent evidence shows the rigidity of vascular smooth muscle cells (VSMC) contributes to vascular mechanics. Arterial rigidity is an independent cardiovascular risk factor whose associated modifications in VSMC viscoelasticity have never been investigated. This study's objective was to evaluate if the arterial rigidity risk factors aging, African ancestry, female sex, smoking and diabetes mellitus are associated with VMSC stiffening in an experimental model using a human derived vascular smooth muscle primary cell line repository.

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The Brazilian population is considered to be highly admixed. The main contributing ancestral populations were European and African, with Amerindians contributing to a lesser extent. The aims of this study were to provide a resource for determining and quantifying individual continental ancestry using the smallest number of SNPs possible, thus allowing for a cost- and time-efficient strategy for genomic ancestry determination.

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While South Americans are underrepresented in human genomic diversity studies, Brazil has been a classical model for population genetics studies on admixture. We present the results of the EPIGEN Brazil Initiative, the most comprehensive up-to-date genomic analysis of any Latin-American population. A population-based genome-wide analysis of 6,487 individuals was performed in the context of worldwide genomic diversity to elucidate how ancestry, kinship, and inbreeding interact in three populations with different histories from the Northeast (African ancestry: 50%), Southeast, and South (both with European ancestry >70%) of Brazil.

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Objective: The search for genetic vulnerability factors in cocaine dependence has focused on the role that neuroplasticity plays in addiction. However, like many other drugs, the ability of an individual to metabolize cocaine can also influence susceptibility to dependence. Butyrylcholinesterase (BChE) metabolizes cocaine, and genetic variants of the BChE gene (BCHE) alter its catalytic activity.

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