0000000001236417

AUTHOR

Felipe-javier Chaves

0000-0001-8009-3689

Association between AT C573T polymorphism and cardiovascular risk factors in myocardial infarction.

Abstract Background Polymorphisms in the AT1 gene have been associated with various parameters related to the pathogenesis of cardiovascular diseases and to myocardial infarction. This study analyzed the relationship between two polymorphisms of the angiotensin II AT-1 receptor gene (AT1_1166 and AT1_573) and the risk of ischemic heart disease by studying their association with several cardiovascular risk factors. Methods The sample population comprised 356 subjects: 174 patients who had survived myocardial infarction (61.01±8.15 years), and 182 age- and gender-matched controls (mean age of 60.25±9.43). The polymorphisms of the angiotensin II AT1-receptor gene (C573T and A1166C) were studie…

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A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.

Autosomal dominant hypercholesterolemia (ADH) is a genetic disorder characterized by increased low-density lipoprotein (LDL)-cholesterol levels, leading to high risk of premature cardiovascular disease. More than 900 mutations in LDL receptor, six in APOB and 10 in PCSK9 have been identified as a cause of the disease in different populations. All known mutations in PCSK9 causing hypercholesterolemia produce an increase in the enzymatic activity of this protease. Up to now, there are data about the implication of PCSK9 in ADH in a low number of populations, not including a Spanish population.The objective of the study was to study the prevalence of PCSK9 mutations in ADH Spanish population.W…

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How ineffective hypertension control in subjects treated with angiotensin-converting enzyme inhibitors is related to polymorphisms in the renin-angiotensin-aldosterone system.

Abstract Purpose To investigate how genetic polymorphisms of the renin-angiotensin-aldosterone system (RAAS) influence hypertension (HT) control with angiotensin-converting enzyme inhibitor drugs (ACEI). Methods A case–control, cross-sectional population-based nested study (n = 1514) included hypertensive patients treated with ACEI drugs, either alone or with other antihypertensive drugs. We differentiated between those who did not control their HT (cases) with those who did (controls). Each group's characteristics were compared to determine the risk of non-controlled HT associated with RAAS polymorphisms by adjusting for different variables. Results rs11571074 obtained an ORa of 5.26 for T…

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Urinary 8-oxo-7,8-dihydro-2′-deoxyguanosine (8-oxo-dG), a reliable oxidative stress marker in hypertension

The potential use of oxidative stress products as disease markers and progression is an important aspect of biomedical research. In the present study, the quantification of urine 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxo-dG) concentration has been used to express the oxidation status of hypertensive subjects. 8-oxo-dG has been simultaneously isolated and assayed in nuclear (nDNA) and mitochondrial DNA (mtDNA). In addition, oxidative stress of mononuclear cells has been estimated by means of GSH and GSSG levels and GSSG/GSH ratio in hypertensive subjects before and after antihypertensive treatment. It is shown that oxidative stress decreases significantly in hypertensive patients after trea…

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Importance of HDL cholesterol levels and the total/ HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia

Aims To assess the relationship of the lipid profile to coronary heart disease in a group of heterozygous familial hypercholesterolaemic subjects with similar age, sex, body mass index, prevalence of angiotensin converting enzyme DD genotype and type of low density lipoprotein receptor mutation. Methods and Results A total of 66 molecularly defined heterozygous familial hypercholesterolaemic subjects, 33 of whom had coronary heart disease, were studied. Clinical features, cardiovascular risk factors and lipid parameters were compared in both groups. Familial hypercholesterolaemic patients with coronary heart disease showed significantly lower values of mean plasma HDL cholesterol and a high…

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