Abstract
Cardiovascular diseases are associated to risk factors as obesity, hypertension and diabetes. The transforming growth factor-β1 receptors ALK1 and endoglin regulate blood pressure and vascular homeostasis. However, no studies relate the association of ALK1 and endoglin polymorphisms with cardiovascular risk factors. We analysed the predictive value of the ALK1 and endoglin polymorphisms on cardiovascular target organ damage in hypertensive and diabetic patients in 379 subjects with or without hypertension and diabetes in a Primary Care setting. The ALK1 rs2071219 polymorphism (AA genotype) is associated with a lower presence of diabetic retinopathy and with the absence of altered basal glycaemia. Being carrier of the ALK1 rs3847859 polymorphism (G allele) is associated with lower basal heart rate and with higher LDL-cholesterol levels. The endoglin rs3739817 polymorphism (AA genotype) is associated with higher levels of LDL-cholesterol, and being carrier of the endoglin rs10987759 polymorphism (C allele) is associated with higher haemoglobin levels and with an increased heart rate. Summarizing, several ALK1 and endoglin gene polymorphisms increase the risk of cardiovascular events. The analysis of these polymorphisms in populations at risk, in combination with the determination of other parameters and biomarkers, could implement the diagnosis and prognosis of susceptibility to cardiovascular damage.
Highlights
Cardiovascular diseases are the main cause of death worldwide[1], which are associated to common risk factors as obesity, hypertension (HT) and diabetes mellitus (DM)[2,3]
Our group has verified the regulatory role of ALK1 in arterial pressure and in cardiovascular physiopathology[23] and in the development of renal fibrosis[24].Despite the existence of these studies that relate ALK1 and endoglin receptors to vascular and renal pathophysiology and cardiovascular risk, at present there are no studies linking the presence of polymorphic variants in these genes with different cardiovascular risk factors
We selected four polymorphisms of these two genes, ALK1 rs2071219 and rs3847859, and endoglin rs3739817 and rs10987759, all of them associated with vascular alterations, with high prevalence in the general population and whose presence apparently does not influence the biological activity of the protein, and we analyse the association and predictive value of these polymorphic variants on cardiovascular target organ damage in at-risk populations (HT and DM patients)
Summary
Cardiovascular diseases are the main cause of death worldwide[1], which are associated to common risk factors as obesity, hypertension (HT) and diabetes mellitus (DM)[2,3]. Cardiovascular risk increases markedly with high blood pressure (BP), DM and other risk factors[2], including renal[4], cardiac[5] and vascular target organ damage[6,7]. Both large and small vessels may be affected in these syndromes. We selected four polymorphisms of these two genes, ALK1 rs2071219 and rs3847859, and endoglin rs3739817 and rs10987759, all of them associated with vascular alterations (pulmonary hypertension, arteriovenous malformations), with high prevalence in the general population and whose presence apparently does not influence the biological activity of the protein, and we analyse the association and predictive value of these polymorphic variants on cardiovascular target organ damage in at-risk populations (HT and DM patients)
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