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[Genetic markers in essential hypertension]
Cristóbal Passalacqua1, Silvia Castillo Taucher
1Sección de Genética, Departamento de Medicina, Hospital Clínico Unrilrsidad de Chile. cpassalacqua@gmail.com
Insights
Essential hypertension (HTA) is common in Chile, with genetic factors contributing significantly to its development. Future prevention and personalized therapy will likely rely on a combination of genetic markers for individual susceptibility.
Area of Science:
- Genetics and cardiovascular disease research.
- Exploration of genetic predispositions to essential hypertension (HTA).
Context:
- Essential hypertension (HTA) affects 33.7% of the Chilean population.
- Genetic factors account for 30-50% of hypertension risk.
- Current cardiovascular disease risk factors lack widely accepted screening biomarkers.
Purpose:
- To review candidate genes and genetic variants associated with essential hypertension (HTA).
- To explore the role of DNA sequencing and single nucleotide polymorphisms (SNPs) in identifying HTA risk.
- To discuss the potential for personalized medicine in hypertension management.
Summary:
- Research has identified candidate genes in pathways like the renin-angiotensin-aldosterone system and G protein signaling.
- Studies utilize DNA sequencing and SNPs to find associations with multifactorial diseases such as HTA.
- Genes related to collagen, myocardial proteins (cytochrome P450), and growth factors are among those investigated.
Impact:
- A universal biomarker for hypertension is unlikely in the near future.
- Future prevention and personalized therapy will likely involve a series of individual susceptibility markers.
- This approach aims to improve screening and tailor treatments for essential hypertension (HTA).
Abstract:
Essential hypertension (HTA) is a multifactorial disease and in Chile, its prevalence is 33.7%. There is a genetic predisposition to develop hypertension, whose magnitude is approximately 30 to 50%. At present, some factors are known to increase the risk for cardiovascular disease, but widely accepted biomarkers for screening are missing. The first studies that looked for candidate genes have focused on the renin-angiotensin--aldosterone, aducina, adrenoreceptors beta, G protein subunits, G protein signaling regulators, kinases associated with G proteins and Rho kinases. Studies of DNA sequencing search for polymorphisms and variants through single nucleotide polymorphisms, have been used to seek partnerships with complex or multifactorial diseases, like HTA. Examples of these are: components of collagen proteins, genes related to cell myocardial proteins belonging to cytochrome P450 and growth factors, among others. It is still unlikely to count in a near future with a universal marker. Most probably, a series of markers that confer susceptibility to a specific individual will have to be used in prevention programs or personalized therapy.
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