scholarly journals Protective Effect of R Allele ofPON1Gene on the Coronary Artery Disease in the Presence of Specific Genetic Background

2008 ◽  
Vol 24 (2) ◽  
pp. 81-88 ◽  
Author(s):  
Anna Balcerzyk ◽  
Iwona Zak ◽  
Jolanta Krauze

Background: Genetic susceptibility to CAD may be determined by polymorphic variants of genes encoding isoforms involved in the processes important in the pathogenesis of atherosclerosis, including lipids disorders. Participation of single polymorphic variants is relatively small, however its significance may increase in the presence of specific genetic or environmental background.Aim: The aim of the study was an evaluation a possible association between single polymorphic variants ofPON1, APOE, ABCA1andPPARAgenes and CAD and looking for specific multigene genotype patterns which differentiate study groups.Materials and methods: We studied 358 subjects:178 patients with angiographically confirmed CAD and 180 blood donors without history of CAD. Polymorphisms were genotyped using PCR-RFLP method.Results: We observed statistically significant differences in the frequencies of R allele and R allele carriers ofPON1gene between CAD and controls. The distribution of genotypes and alleles of other analyzed genes did not differentiate the study groups, however the presence of specific genotypes (APOE– ɛ3ɛ3, ɛ3ɛ2,ABCA1– AG,PPARA– GG) increased the protective effect of R allele.Conclusion: The present study revealed an independent protective association between carrier-state of PON1 R allele and CAD. This protective effect was especially strong in the presence of specific genotype arrangements of other analyzed genes.

2007 ◽  
Vol 97 (03) ◽  
pp. 458-463 ◽  
Author(s):  
Zsuzsanna Bereczky ◽  
Éva Katona ◽  
Róza Ádány ◽  
László Muszbek ◽  
Zoltán Vokó

SummarySeveral studies suggested that Val34Leu variant of factor XIII (FXIII) might have a protective effect against coronary artery disease (CAD), but studies not supporting these findings have also been published. The authors performed a meta-analysis of 16 studies on 5,346 cases and 7,053 controls that investigated the association between Val34Leu polymorphism and CAD defined as history of myocardial infarction or significant stenosis on a coronary artery assessed by coronary angiography. Because of the heterogeneity of the study-specific results, the pooled effect estimates were calculated by a random-effects empirical Bayes model. The combined odds ratios for CAD were 0.82 (95% confidence interval [95% Cl] 0.73, 0.94) for the heterozygotes of the FXIIIVal34Leu variant, 0.89 (95% CI 0.69, 1.13) for the homozygotes, and 0.81 (95% CI 0.70, 0.92) for the heterozygotes and homozygotes combined. The results were essentially the same when only myocardial infarction was considered as outcome. The beneficial effect of the polymorphism might be smaller than the effect estimates obtained in this metaanalysis, because the analysis raised the possibility of publication bias. Data published in the literature suggest that gene-gene and gene-environmental interactions might significantly influence the protective effect of FXIII-AVal34Leu polymorphism.


2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Tatiana I. Ivanova ◽  
Ludmila I. Krikunova ◽  
Nikolay I. Ryabchenko ◽  
Liana S. Mkrtchyan ◽  
Vera A. Khorokhorina ◽  
...  

Genes encoding proteins with antioxidant properties may influence susceptibility to endometrial hyperplasia (EH) and endometrial carcinoma (ECa). Patients with EH (n= 89), EH concurrent with ECa (n= 76), ECa (n= 186), and healthy controls (n= 1110) were genotyped for five polymorphic variants in the genes involved in metabolism of lipoproteins (APOECys112Arg and Arg158Cys), iron (HFECys282Tyr and His63Asp), and catecholamines (COMTVal158Met). Patients and controls were matched by ethnicity (all Caucasians), age, body mass index (BMI), and incidence of hypertension and diabetes. The frequency of theAPOEE 2 allele (158Cys) was higher in patients with EH + ECa than in controls (P= 0.0012,PBonferroni= 0.018, OR = 2.58, 95% CI 1.49–4.45). TheAPOEE 4 allele (112Arg) was more frequently found in patients with EH than in controls andHFEminor allele G (63Asp) had a protective effect in the ECa group, though these results appeared to be nonsignificant after correction for multiple comparisons. The results of the study indicate that E 2 allele might be associated with concurrent occurrence of EH and ECa.


2020 ◽  
Author(s):  
Leonn Mendes Soares Pereira ◽  
Max Willy da Silva Madureira ◽  
Renata Bezerra Hermes de Castro ◽  
Isabella Nogueira Abreu ◽  
Simone Regina Souza da Silva Conde ◽  
...  

Abstract Background: The forkhead box protein 3 (FOXP3) transcription factor is one of the main markers of immunological suppression in different pathological profiles, and the presence of polymorphic variants may alter the gene expression of this factor. Despite descriptions of an association between the presence of the rs2232365 polymorphism and chronic diseases, the role of the sex variant in this context has not yet been elucidated, as the FOXP3 gene is located on the human sex chromosome X. Results: To contribute to this topic, 323 women and 373 men were enrolled in the study, of which 101 were diagnosed with chronic viral liver diseases (39 women and 62 men), 67 with HTLV-1 infection (44 women and 23 men), 230 with coronary artery disease (91 women and 139 men) and 298 healthy and uninfected blood donors (149 women and men). They were genotyped for the rs2232365 polymorphism. The rs2232365 polymorphism was associated with clinical and pathological aspects and biomarkers of viral infections only in men, with functional differences between different infections. Conclusions: A relationship is suggested between sex and FOXP3 rs2232365 polymorphism, resulting in different biological repercussions.


2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Leonn Mendes Soares Pereira ◽  
Max Willy da Silva Madureira ◽  
Renata Bezerra Hermes de Castro ◽  
Isabella Nogueira Abreu ◽  
Simone Regina Souza da Silva Conde ◽  
...  

Abstract Background The forkhead box protein 3 (FOXP3) transcription factor is one of the main markers of immunological suppression in different pathological profiles, and the presence of polymorphic variants may alter the gene expression of this factor. Despite descriptions of an association between the presence of the rs2232365 polymorphism and chronic diseases, the role of the sex variant in this context has not yet been elucidated, as the FOXP3 gene is located on the human sex chromosome X. Results To contribute to this topic, 323 women and 373 men were enrolled in the study, of which 101 were diagnosed with chronic viral liver diseases (39 women and 62 men), 67 with HTLV-1 infection (44 women and 23 men), 230 with coronary artery disease (91 women and 139 men) and 298 healthy and uninfected blood donors (149 women and men). They were genotyped for the rs2232365 polymorphism. The rs2232365 polymorphism was associated with clinical and pathological aspects and biomarkers of viral infections only in men, with functional differences between different infections. Conclusions A relationship is suggested between sex and FOXP3 rs2232365 polymorphism, resulting in different biological repercussions.


2020 ◽  
Author(s):  
Leonn Mendes Soares Pereira ◽  
Max Willy da Silva Madureira ◽  
Renata Bezerra Hermes de Castro ◽  
Isabella Nogueira Abreu ◽  
Simone Regina Souza da Silva Conde ◽  
...  

Abstract Background: The forkhead box protein 3 (FOXP3) transcription factor is one of the main markers of immunological suppression in different pathological profiles, and the presence of polymorphic variants may alter the gene expression of this factor. Despite descriptions of an association between the presence of the rs2232365 polymorphism and chronic diseases, the role of the sex variant in this context has not yet been elucidated, as the FOXP3 gene is located on the human sex chromosome X. Results: To contribute to this topic, 323 women and 373 men were enrolled in the study, of which 101 were diagnosed with chronic viral liver diseases (39 women and 62 men), 67 with HTLV-1 infection (44 women and 23 men), 230 with coronary artery disease (91 women and 139 men) and 298 healthy and uninfected blood donors (149 women and men). They were genotyped for the rs2232365 polymorphism. The rs2232365 polymorphism was associated with clinical and pathological aspects and biomarkers of viral infections only in men, with functional differences between different infections. Conclusions: A relationship is suggested between sex and FOXP3 rs2232365 polymorphism, resulting in different biological repercussions.


1997 ◽  
Vol 77 (05) ◽  
pp. 0955-0958 ◽  
Author(s):  
Carole A Foy ◽  
Peter J Grant

SummaryPAI-2 is a fibrinolytic inhibitor produced predominantly by monocytes. Most PAI-2 is intracellular making study in clinical conditions difficult. Abnormalities in production may be associated with inflammation and fibrinolysis at sites of tissue damage such as the atherosclerotic plaque.PAI-2 gene variants have been described: variant A consists of Asn120, Asn404 and Ser413 and variant B consists of Asp120, Lys404 and Cys413. We designed a PCR-RFLP assay using primers spanning the region containing Asn/Lys404 and Ser/Cys413. Variant B contains an Mwol restriction site. We analysed 302 Pima Indians and 286 healthy Caucasian volunteers. To investigate relationships between genotype and vascular disease we analysed 333 Caucasian patients undergoing coronary angiography.Gene variant B was more common in the Pimas than in Caucasians (p <0.0001). There was no significant difference in genotype distribution between the volunteers and patients. In the patients there was no association between genotype and either a history of MI or extent of coronary atheroma.


2020 ◽  
Vol 28 ◽  
pp. 1-3
Author(s):  
Alexandre Bonfim ◽  
Ronald Souza ◽  
Sérgio Beraldo ◽  
Frederico Nunes ◽  
Daniel Beraldo

Right coronary artery aneurysms are rare and may result from severe coronary disease, with few cases described in the literature. Mortality is high, and therapy is still controversial. We report the case of a 72-year-old woman with arterial hypertension, and a family history of coronary artery disease, who evolved for 2 months with episodes of palpitations and dyspnea on moderate exertion. During the evaluation, a giant aneurysm was found in the proximal third of the right coronary artery. The patient underwent surgical treatment with grafting of the radial artery to the right coronary artery and ligation of the aneurysmal sac, with good clinical course.


Nutrients ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 1206
Author(s):  
Rafael Guerrero-Bonmatty ◽  
Guadalupe Gil-Fernández ◽  
Francisco José Rodríguez-Velasco ◽  
Jordi Espadaler-Mazo

Background: Dietary supplements have been proposed to help manage blood cholesterol, including red yeast rice (RYR) extracts, plant sterols and stanols, beta-glucans, and some probiotics. This study was conducted to evaluate the efficacy of RYR (containing 10 mg of monacolin K) combined with 109 CFU of three Lactoplantibacillus plantarum strains (CECT7527, CECT7528, and CECT7529). Methods: A 12-week randomized, double-blinded, placebo-controlled clinical trial was conducted. In total, 39 adult patients were enrolled, having total cholesterol (TC) ≥200 mg/dL, and being statin-naïve or having recently stopped statin treatment because of intolerance. Active product or placebo were taken once daily, and subjects were evaluated at baseline, 6, and 12 weeks. Results: Study groups were comparable at baseline, except for history of recent hypercholesterolemia treatment (81% in active vs. 22% in placebo). Changes in LDL cholesterol and TC became significant compared to placebo (mean difference between groups and standard error of the mean = 23.6 ± 1.5 mg/dL, p = 0.023 and 31.4 ± 1.9 mg/dL, p = 0.011, respectively) upon adjusting for the baseline imbalance in hypercholesterolemia treatment. No adverse effects were noted during the study. Conclusion: This combination of 10 mg of monacolin K and L. plantarum strains was well tolerated and achieved a statistically significant greater reduction in LDL-C and TC in the intervention group compared to the placebo, once adjusting for recent history of hypercholesterolemia treatment.


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