scholarly journals Prevalence of IGFBP3, NOS3 and TCF7L2 polymorphisms and their association with hypertension: a population-based study with Brazilian women of African descent

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Abel Barbosa Lira Neto ◽  
Nancy Borges Rodrigues Vasconcelos ◽  
Tamara Rodrigues dos Santos ◽  
Luisa Elvira Cavazzani Duarte ◽  
Monica Lopes Assunção ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
African Descent ◽  
African Ancestry ◽  
Population Based ◽  
Population Based Study ◽  
Genetic Studies ◽  
Nitric Oxide Metabolism ◽  
Women Of African Descent ◽  
Underlying Mechanisms ◽  
Tcf7l2 Rs7903146

Abstract Objective African ancestry seems to be a risk factor for hypertension; however, few genetic studies have addressed this issue. This study aimed to investigate the prevalence of polymorphisms NOS3; rs1799983, IGFBP3; rs11977526 and TCF7L2; rs7903146 in Brazilian women of African descent and their association with hypertension. Results The prevalences of the less frequent genotypes were 26.5% TT genotype of NOS3; rs1799983, 16.7% AA genotype of IGFBP3; rs11977526, and 18.3% TT genotype of TCF7L2; rs7903146. For these conditions, the prevalence of hypertension and PR (adjusted) relatively to the ancestral genotype were, respectively: 52.0% vs 24.5% (PR = 1.54; p < 0.001), 62.0% vs 24.1% (PR = 1.59; p < 0.001), and 38.9% vs 27.9% (PR = 0.86; p = 0.166). Associations with hypertension were statistically significant, except for the TCF7L2; rs7903146 polymorphism, after adjusted analysis. Brazilian Afro-descendant women with the TT genotype for the NOS3 gene and the AA genotype for the IGFBP3 gene are more susceptible to hypertension. The understanding of underlying mechanisms involving the pathogenesis of hypertension can motivate research for the development of new therapeutic targets related to nitric oxide metabolism and the management of oxidative stress.

scholarly journals Prevalence of IGFBP3, NOS3 and TCF7L2 Polymorphisms and Their Association With Hypertension: A Population-Based Study With Brazilian Women of African Descent

2020 ◽  
Author(s):  
Abel Lira ◽  
Nancy Vasconcelos ◽  
Tamara Santos ◽  
Luisa Duarte ◽  
Monica Assunção ◽  
...  
Keyword(s):  
African Descent ◽  
African Ancestry ◽  
Prevalence Ratio ◽  
Population Based ◽  
Cross Sectional Study ◽  
Allelic Discrimination ◽  
Cross Sectional ◽  
Selection Of Variables ◽  
Women Of African Descent ◽  
Measure Of Association

Abstract Background: African ancestry seems to be a risk factor for hypertension; however, few genetic studies have addressed this issue. This study aimed to investigate the prevalence of polymorphisms NOS3; rs1799983, IGFBP3; rs11977526 and TCF7L2; rs7903146 in Brazilian women of African descent and their association with hypertension.Methods: This is a cross-sectional study with a sample of 1021 women (19–59 years old) from the quilombola communities of Alagoas (Brazil). Demographic, socioeconomic, lifestyle, anthropometric, biochemical, and blood pressure data were collected. DNA was extracted from mucosa epithelial cells of the participants’ cheek. Genotyping was performed by PCR allelic discrimination. Prevalence ratio (PR) was the measure of association, calculated by Poisson regression, with a hierarchical selection of variables.Results: The prevalences of the less frequent genotypes were 26.5% TT genotype of NOS3; rs1799983, 16.7% AA genotype of IGFBP3; rs11977526, and 18.3% TT genotype of TCF7L2; rs7903146. For these conditions, the prevalence of hypertension and PR (adjusted) relatively to the ancestral genotype were, respectively: 52.0% vs 24.5% (PR=1.54; p<0.001), 62.0% vs 24.1% (PR=1.59; p<0.001), and 38.9% vs 27.9% (PR=0.86; p=0.166). Associations with hypertension were statistically significant, except for the TCF7L2; rs7903146 polymorphism, after adjusted analysis. Conclusions: Brazilian Afro-descendant women with the TT genotype for the NOS3 gene and the AA genotype for the IGFBP3 gene are more susceptible to hypertension. The understanding of underlying mechanisms involving the pathogenesis of hypertension can motivate research for the development of new therapeutic targets related to nitric oxide metabolism and the management of oxidative stress.

scholarly journals Clinical relevant polymorphisms affecting clopidogrel pharmacokinetics and pharmacodynamics: Insights from the Puerto Rico Newborn Screening Program

2018 ◽  
Author(s):  
Dagmar Fredy Hernandez-Suarez ◽  
Jonnalie Tomassini-Fernandini ◽  
Angelica Cuevas ◽  
Anyelis Rosario-Berrios ◽  
Héctor Nuñez-Medina ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Puerto Ricans ◽  
African Ancestry ◽  
Population Based ◽  
Genome Project ◽  
Newborn Screening Program ◽  
Cross Sectional ◽  
Population Based Study ◽  
Hardy Weinberg Equilibrium

Background: Variations in several clopidogrel-pharmacogenes have been linked to clopidogrel response variability and clinical outcomes. We aimed to determine the frequency distribution of major polymorphisms on CYP2C19, PON1, ABCB1 and P2RY12 pharmacogenes in Puerto Ricans. Methods: This was a cross-sectional, population-based study of 200 unrelated &ldquo;Guthrie&rdquo; cards specimens from newborns registered in the Puerto Rican Newborn Screening program (PRNSP) between 2004 and 2014. Taqman&reg; SNP assay techniques were used for genotyping. Results: Minor Allele Frequencies (MAF) were 46% for PON1 (rs662), 41% for ABCB1 (rs1045642), 14% for CYP2C19*17, 13% for CYP2C19*2, 12% for P2RY12-H2 and 0.3% for CYP2C19*4. No carriers of the CYP2C19*3 variants were detected. All alleles and genotype proportions were found to be in Hardy-Weinberg equilibrium (HWE). Overall, there were no significant differences between MAFs of these variants in Puerto Ricans and the general population (n=453) of the 1,000 Genome project, except for the Yoruba in Ibadan from Nigeria (YRI, West-African ancestry; p&lt;0.05). As expected, the prevalence of these markers in Puerto Ricans most resembled those in the 181 subjects from reference populations of the Americas. Conclusions: These prevalence data provide a necessary groundwork for future clinical studies of clopidogrel pharmacogenetics in Caribbean Hispanics.

scholarly journals A population based study of surgeon characteristics associated with the uptake of contemporary techniques in renal surgery

2013 ◽  
Vol 7 (9-10) ◽  
pp. 576 ◽  
Author(s):  
Stanley A Yap ◽  
Shabbir M.H. Alibhai ◽  
David Margel ◽  
Robert Abouassaly ◽  
Narhari Timilshina ◽  
...  
Keyword(s):  
Regression Models ◽  
Surgical Techniques ◽  
Population Based ◽  
Academic Status ◽  
Renal Surgery ◽  
Population Based Study ◽  
Logistic Regression Models ◽  
Ontario Cancer Registry ◽  
Renal Tumours ◽  
Underlying Mechanisms

Introduction: We have witnessed the slow uptake of many contemporary techniques in the surgical management of renal tumours. We sought to evaluate surgeon-level characteristics associated with the uptake of laparoscopy, partial nephrectomy (PN) and adrenal-sparing approaches in surgically managing these tumours.Methods: Using the Ontario Cancer Registry, we identified surgeons treating renal cell carcinoma (RCC) in the province of Ontario, Canada between 2002 and 2004. We then classified individuals within this cohort as either high or low utilizers of laparoscopy, PN or adrenal-sparing approaches. Further variables analyzed included academic status, surgeon graduation year and surgical volume status. We then used univariable and multivariable logistic regression models to assess predictors of uptake.Results: We evaluated a total of 108 surgeons for their uptake of both laparoscopy and adrenal-sparing approaches and 94 surgeonsfor their uptake of PN. We identified 32 surgeons (30%) as high users of laparoscopy. Predictors of uptake of laparoscopy included graduation year after 1990 (odds ratio [OR] 4.81, confidence interval [CI] 1.57-14.8) and high-surgeon volume (OR 4.33, CI1.60-10.4). We identified 41 surgeons (44%) as high users of PN. The only predictor of uptake of PN was academic status (OR 5.83,CI 1.96-17.3). We identified 69 surgeons (65%) as high users of adrenal-sparing approaches, but did not identify any significant predictors for uptake in this group.Discussion: We identify unique factors contributing to the uptake of distinct surgical techniques in the management of RCC. This information sheds lights on the underlying mechanisms and helps us understand how to further encourage the dissemination of these practices.

P3-041: Transthyretin correlated with oxidative stress in Alzheimer's disease pathology: A population-based study (BERCAL)

2009 ◽  
Vol 5 (4S_Part_12) ◽  
pp. P352-P352
Author(s):  
Katarzyna A. Gustaw ◽  
Magdalena Dmoszyńska-Graniczka ◽  
Krystyna Kowalczuk ◽  
Jacek Kurzepa ◽  
Marta Stryjecka-Zimmer
Keyword(s):  
Oxidative Stress ◽  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Population Based ◽  
Population Based Study

scholarly journals Association between estimated glomerular filtration rate and sodium excretion in urine of African descendants in Brazil: a population-based study

2018 ◽  
Vol 40 (3) ◽  
pp. 248-255 ◽  
Author(s):  
Elisângela Milhomem dos Santos ◽  
Dyego José de Araújo Brito ◽  
Ana Karina da Cunha Teixeira França ◽  
Joyce Santos Lages ◽  
Alcione Miranda dos Santos ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Glomerular Filtration Rate ◽  
Kidney Disease ◽  
Linear Regression ◽  
Sodium Excretion ◽  
Filtration Rate ◽  
Estimated Glomerular Filtration Rate ◽  
African Ancestry ◽  
Population Based ◽  
Population Based Study

ABSTRACT Introduction: Excessive salt intake is a risk factor for the development of chronic kidney disease (CKD). Objective: To evaluate the association between estimated glomerular filtration rate (eGFR) and sodium excretion in urine samples of Brazilians of African ancestry. Methods: Cross-sectional, population-based study of 1,211 Brazilians of African ancestry living in Alcântara City, Maranhão, Brazil. Demographic, nutritional, clinical, and laboratory data were analyzed. The urinary excretion of sodium was estimated using the Kawasaki equation. Calculations of eGFR were based on the Chronic Kidney Disease Epidemiology Collaboration equation. Multivariate linear-regression model was used to identify the relationship between sodium excretion and eGFR. Results: Mean age was 37.5±11.7 years and 52.8% were women. Mean urinary excretion of sodium was 204.6±15.3 mmol/day and eGFR was 111.8±15.3 mL/min/1.73m2. According to multivariate linear regression, GFR was independently correlated with sodium excretion (β=0.11; p<0.001), age (β=-0.67; p<0.001), female sex (β=-0.20; p<0.001), and body mass index (BMI; β=-0.09; p<0.001). Conclusions: The present study showed that age, female sex, BMI, and correlated negatively with eGFR. Sodium excretion was the only variable that showed a positive correlation with eGFR, indicating that high levels of urinary sodium excretion may contribute to hyperfiltration with potentially harmful consequences.

Imbalance of serum trace elements in acute leukemia contributes to pro and anti-oxidative stress via ROS and SOD regulation: a population based study

2015 ◽  
Vol 32 (01) ◽  
pp. 22-27 ◽  
Author(s):  
Ali Tahir ◽  
Ahmed Ashfaq ◽  
Ahsan Khuram Aqeel ◽  
Yasmeen Nuzhat ◽  
Allah Rakha Sobia ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Trace Elements ◽  
Acute Leukemia ◽  
Population Based ◽  
Population Based Study ◽  
Serum Trace Elements

Population-based differences in immune system response contribute to an increased risk of schizophrenia in African migrants?

2018 ◽  
Vol 29 (3) ◽  
pp. 347-353 ◽  
Author(s):  
Milica J. Nesic ◽  
Nadja P. Maric
Keyword(s):  
Immune System ◽  
African Descent ◽  
African Ancestry ◽  
Population Based ◽  
European Ancestry ◽  
System Response ◽  
Increased Risk ◽  
Inflammatory Phenotype ◽  
Research Population ◽  
The One

AbstractAmong the highest incidences of schizophrenia is the one documented in second-generation migrants of African descent in the Western countries. Interestingly, people of African and European ancestry demonstrate significant genetic-based differences in immune system regulation and response. As a result, the pro-inflammatory phenotype is more pronounced in people of African descent than it is in Europeans. At the same time, the role of the immune system in the etiology of schizophrenia is gaining increased recognition. Here, we propose that the population-specific genetic variation within the immune system interacts with unfavourable environments to contribute to a higher risk of schizophrenia in people of African ancestry. Our hypothesis is supported by recent findings from two separate fields of research−population genetics and psychoneuroimmunology. Moreover, we highlight the need to include African populations in genetic studies of schizophrenia.

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