Publications by authors named "Jose M Fragoso"

Article Synopsis
  • The study aimed to determine if five specific single nucleotide polymorphisms (SNPs) in the DPP4 gene could serve as risk markers for in-stent restenosis in patients with coronary stents.
  • Genotyping was conducted on 190 patients, comparing 60 with restenosis to 130 without, using TaqMan assays.
  • Findings indicated that the CC genotype of the rs12617656 SNP significantly correlates with an increased risk of restenosis, while other examined SNPs showed no difference between the two patient groups; a specific haplotype (CTC) was also linked to restenosis susceptibility.
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The cholesterol 7 alpha-hydroxylase (CYP7A1) enzyme plays an important role in the conversion of cholesterol to bile acid, contributing to the reduction of cholesterol plasma levels in normal conditions. Nonetheless, recent studies have shown that some genetic variants in the enhancer and promoter regions of the CYP7A1 gene reduce the expression of the CYP7A1 enzyme, increasing plasma lipid levels, as well as the risk of developing coronary heart disease. The aim of this work was to explore whether the genetic variants (rs2081687, rs9297994, rs10107182, rs10504255, rs1457043, rs8192870, and rs3808607) of the CYP7A1 gene are involved in subclinical atherosclerosis and plasma lipid levels.

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Background: In the present study, we evaluated whether gene polymorphisms are associated with the presence of coronary artery disease (CAD).

Methods: Two rs11362 , and rs1800972 gene polymorphisms of gene were genotyped by 5'exonuclease TaqMan assays in 219 patients with CAD and 522 control individuals.

Results: The distribution of rs1800972 polymorphisms was similar in patients with CAD and healthy controls.

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: Non-alcoholic fatty liver disease (NAFLD) is associated with obesity and ranges from simple steatosis to non-alcoholic steatohepatitis (NASH), fibrosis, cirrhosis, and hepatocellular carcinoma. Accumulating evidence in animal models suggests that loss of interleukin-10 (IL-10) anti-inflammatory actions might contribute to lobular inflammation, considered one of the first steps toward NASH development. However, the role of IL-10 in lobular inflammation remains poorly explored in humans.

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Monocyte chemoattractant protein-1 (MCP-1) participates in the initiation and progression of atherosclerosis. In vitro studies have reported that the rs1024611 polymorphism is associated with increased MCP-1 concentrations. The study aimed to define whether MCP-1 concentrations are associated with premature coronary artery disease (pCAD) and to establish whether variations in the rs1024611 polymorphism increase MCP-1 concentrations.

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The host immune response might confer differential vulnerability to SARS-CoV-2 infection. The Toll-like receptor 8 (TLR8), could participated for severe COVID-19 outcomes. To investigated the relationship of TLR8 rs3764879-C/G, rs3764880-A/G, and rs3761624-A/G with COVID-19 outcomes and with biochemical parameters.

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Introduction: Serine proteases play a critical role during SARS-CoV-2 infection. Therefore, polymorphisms of transmembrane protease serine 2 () and serpine family E member 1 () could help to elucidate the contribution of variability to COVID-19 outcomes.

Methods: To evaluate the genetic variants of the genes previously associated with COVID-19 outcomes, we performed a cross-sectional study in which 1536 SARS-CoV-2-positive participants were enrolled.

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Cholesterol-7-alpha hydroxylase (CYP7A1) is a key enzyme in the synthesis of bile salts, and its activity can contribute to determining cholesterol levels and, consequently, the risk of developing coronary atherosclerotic disease. We evaluated whether seven (rs3808607 , rs9297994 , rs10504255 , rs8192870 , rs2081687 , rs1457043 and rs10107182 polymorphisms located in the promoter and enhancer regions of the gene, which have not been sufficiently explored, are candidates of risk markers of acute coronary syndrome (ACS) in the Mexican population. These polymorphisms were determined in a group of 1317 patients with ACS and 1046 control subjects.

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Article Synopsis
  • The study investigated the relationship between IL-6 gene polymorphisms and IL-6 levels with premature coronary artery disease (pCAD) and cardiovascular risk factors in a sample of 1150 pCAD patients and 1083 healthy controls.
  • Results showed that while IL-6 polymorphisms did not connect to pCAD, they were linked to cardiovascular risk factors such as obesity and lipid levels in both groups.
  • Higher IL-6 levels were found in pCAD patients compared to controls, with specific polymorphisms indicating increased risk for certain metabolic conditions in pCAD patients.
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Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for causing coronavirus disease 2019 (COVID-19). The development and severity of this infectious disease is influenced by a combination of environmental and genetic factors. Angiotensin-converting enzyme 2 (ACE2) facilitates SARS-CoV-2 entry into human cells, with transmembrane serine protease 2 (TMPRSS2) playing a crucial role in S protein priming.

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(1) Background: Previous studies have enriched high-density lipoproteins (HDL) using cholesteryl esters in rabbits with a three-quarter reduction in functional renal mass, suggesting that the kidneys participate in the cholesterol homeostasis of these lipoproteins. However, the possible role of the kidneys in lipoprotein metabolism is still controversial. To understand the role of the kidneys in regulating the HDL lipid content, we determined the turnover of HDL-cholesteryl esters in rabbits with a three-quarter renal mass reduction.

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Article Synopsis
  • Researchers studied the link between ABO gene polymorphisms and acute coronary syndrome (ACS) as well as lipid metabolism, finding significant associations.
  • The rs8176746 T allele and rs8176740 A allele were linked to a lower risk of ACS across multiple genetic models, and the rs579459 C allele also showed protective effects.
  • Additionally, specific alleles were correlated with lower blood pressure and healthier lipid profiles, indicating a potential causal relationship between ABO blood groups and ACS risk.
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Dementia is a multifactorial disease in which environmental, lifestyle, and genetic factors intervene. Population studies have been used in looking for the susceptibility genes for this disease. Since the activity of dopamine b hydroxylase (DβH) is reduced in the hippocampus and neocortex in the brain, changes in the physiological status of dopamine have been reported in Alzheimer's disease (AD) induced by this enzyme.

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Coronavirus (CoV) infections cause respiratory and enteric diseases with clinical manifestations ranging from faint to severe, even lead to death of patients. High connectivity between nations and infectivity of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), represent a global health problem as the coronavirus disease 19 (COVID-19). This CoV-2 that cause SARS, which appeared in Wuhan, China, in December 2019 originated COVID-19 and declared as pandemic a few months posterior its appearance.

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Robust data in animals show that sucralose intake during gestation can predispose the offspring to weight gain, metabolic disturbances, and low-grade systemic inflammation; however, concluding information remains elusive in humans. In this cross-sectional, prospective study, we examined the birth weight, glucose and insulin cord blood levels, monocyte subsets, and inflammatory cytokine profile in 292 neonates at term from mothers with light sucralose ingestion (LSI) of less than 60 mg sucralose/week or heavy sucralose intake (HSI) of more than 36 mg sucralose/day during pregnancy. Mothers in the LSI ( = 205) or HSI ( = 87) groups showed no differences in age, pregestational body mass index, blood pressure, and glucose tolerance.

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SARS-CoV-2 uses the ACE2 receptor and the cellular protease TMPRSS2 for entry into target cells. The present study aimed to establish if the TMPRSS2 polymorphisms are associated with COVID-19 disease. The study included 609 patients with COVID-19 confirmed by RT-PCR test and 291 individuals negative for the SARS-CoV-2 infection confirmed by RT-PCR test and without antibodies anti-SARS-CoV-2.

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Article Synopsis
  • This study investigates the association between TNFSF4 gene polymorphisms and two autoimmune diseases: rheumatoid arthritis (RA) and primary Sjögren's syndrome (pSS).
  • Three specific genetic variants (SNPs) were analyzed in a sample of over 1,100 individuals, including patients with RA and pSS as well as healthy controls.
  • Results indicate that certain TNFSF4 SNPs are linked to an increased risk of developing RA, but the connection with pSS was not supported after statistical adjustments.
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Article Synopsis
  • * The researchers found that the AA genotype of the CASP1 rs501192 A/G and rs580253 A/G polymorphisms significantly increased the risk of restenosis, with diverse statistical models supporting these results.
  • * Additionally, a strong gene interaction (between BAT1, NFKBIL1, LTA, and CASP1) was discovered, indicating that these genes collectively contribute to heightened restenosis risk after stent placement.
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Article Synopsis
  • FOXA3 is a transcription factor that plays a role in reducing atherosclerotic lesions through cholesterol management in macrophages.
  • A study analyzed the impact of two FOXA3 polymorphisms (rs10410870 and rs10412574) on subclinical atherosclerosis (SA) in 386 individuals with SA compared to 1070 controls, finding no direct link to SA.
  • While there was no association with SA, the polymorphisms were linked to various cardiometabolic risks, such as cholesterol levels and insulin resistance, in both groups, and rs10410870 was also connected to increased risk of aortic valve calcification.
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We conducted a case-control study in order to evaluate whether gene polymorphisms were associated with a high risk of developing COVID-19 in a cohort of patients. Six gene polymorphisms (rs651007 /, rs579459 /, rs495828 , rs8176746 , rs8176740 , and rs512770 /) were determined using TaqMan genotyping assays in a group of 415 COVID-19 patients and 288 healthy controls. The distribution of rs651007 /, rs579459 /, rs495828 /, and rs8176746 / polymorphisms was similar in patients and healthy controls.

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Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the current coronavirus disease 2019 (COVID-19) pandemic, affecting more than 219 countries and causing the death of more than 5 million people worldwide. The genetic background represents a factor that predisposes the way the host responds to SARS-CoV-2 infection. In this sense, genetic variants of and could explain the observed interindividual variability to COVID-19 outcomes.

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Objective: We evaluated whether cholesteryl ester transfer protein (CETP) gene polymorphisms are associated with the presence of coronary artery disease (CAD) and/or restenosis in patients with coronary stent.

Methods: Two polymorphisms of the CETP gene [-971 A/G (rs4783961), and Taq1B A/G (rs708272)] were genotyped by 5'exonuclease TaqMan assays in 219 patients with CAD (66 patients with restenosis and 153 without restenosis) and 607 control individuals.

Results: The distribution of polymorphisms was similar in patients with and without restenosis.

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Increasing evidence has demonstrated that oxidized low-density lipoproteins (oxLDL) and lipopolysaccharide (LPS) enhance accumulation of interleukin (IL)-1 beta-producing macrophages in atherosclerotic lesions. However, the potential synergistic effect of native LDL (nLDL) and LPS on the inflammatory ability and migration pattern of monocyte subpopulations remains elusive and is examined here. In vitro, whole blood cells from healthy donors (n = 20) were incubated with 100 μg/mL nLDL, 10 ng/mL LPS, or nLDL + LPS for 9 h.

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High-density lipoproteins' (HDL) stability is a determinant of their residence times in plasma and consequently an important parameter that influences the beneficial properties of these lipoproteins. Since there are no accessible procedures for this purpose, here, we describe the methodological conditions to assess the stability of the HDL based on the redshift of the fluorescence spectrum of tryptophans contained in the structure of HDL-apolipoproteins during incubation with urea 8M. Along the HDL denaturation kinetics, the main variations of fluorescence were observed at the wavelengths of 330, 344, and 365 nm at room temperature.

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Dyslipidemia has a substantial role in the development of acute coronary syndrome (ACS). Previous reports, including genome-wide associations studies (GWAS), have shown that some genetic variants of the proprotein convertase subtilisin-kexin type 7 gene are associated with plasma lipid levels. In the present study, we evaluated whether gene polymorphisms are significantly associated with the plasma lipid profile and ACS.

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