Arterial Hypertension (AHTN)
Arterial Hypertension is the major cause of cardiovascular diseases (CVD), which are the leading cause of death worldwide. According to the World Heart Federation, Hypertension is a risk factor for coronary heart disease and the single most important risk factor for stroke. It causes about 50% of ischaemic strokes and increases the risk of hemorrhagic stroke.
Genomic data obtained from Genome Wide Association Studies (GWAS) have contributed to the understanding of the genetic basis of hypertension. In the case of AHTN, the genotype-phenotype association model is applied: “common disease, common variant” (Nat Rev Genet 2008;9 (5):356-369).
40% of adults aged 25 and over have AHTN and is a disease that often goes undetected.
Heritability varies between 35% and 50% in the majority of studies.
57% of hypertensive patients have non-controlled hypertension due to poor treatment compliance or inadequate treatment.
AHTN is the leading cause of mortality, responsible for 13% of deaths globally (WHO).
DNArterial® Genetic Test
Study of molecular markers of essential hypertension and associated cardiovascular events.
The use of genetic testing for AHTN can be considered to:
- evaluate the risk for essential hypertension in individuals with pre-hypertension values and moderate risk
- inform about the effectiveness of anti-hypertensive therapies according to genetic makeup (pharmacogenetics).
- evaluate the predisposition for essential hypertension early in life.
- confirm the genetic cause and support the clinical diagnosis of Essential Hypertension.
- assess how the disease may develop through age.
DNArterial® evaluates 57 genetic variants in 37 genes related to the regulation and/or dysfunction of the:
- renin-angiotensin-aldosterone system (RAAS)
- vascular endothelium
- regulation of sodium channels
- autonomous nervous system
- signal transduction system
ACE (1), ADD1 (1), ADRA1A (2), ADRB1 (2), ADRB2 (1), AGT (3), AGTR1 (2), AGTR2 (2), BDKRB2 (1), CACNB2 (1), CACN1C (1), CALCA (1), CLCNKA (1), CLCNKB (1), CORIN (2), CYBA (2), CYP4A11 (1), CYP17A1 (1), DRD3 (1), ECE1 (1), EDN1 (1), EDNRA (1), FGF5 (1), GCH1 (1), GRK4 (3), KCNMB1 (2), NOS2 (1), NOS3 (2), NPPA (3), NPPC (1), NR3C2 (1), REN (4), RETN (1), SCNN1A (2), SLC12A3 (2), STK39 (1), WNK1 (2)
International Medical Guidelines
European Society of Hypertension (ESH) and of the European Society of Cardiology (ESC) Guidelines for the management of arterial hypertension (2013):
“A family history of premature hypertension and/or premature CVD is an important first indicator of familial (genetic) predisposition to hypertension and CVD and may trigger clinically indicated genetic tests.”
“A positive family history is a frequent feature in hypertensive patients, with the heritability estimated to vary between 35% and 50% in the majority of studies and heritability has been confirmed for ambulatory BP”
Reappraisal of European guidelines on hypertension management: A European Society of Hypertension, Task Force document, 2011:
“Although it is possible that the use of two drugs together implies the administration of a futile one, searching for the most effective monotherapy in every given patient is painstaking, and may discourage compliance – although pharmacogenetics may in future provide predictive clues. Furthermore, there are physiological and pharmacological synergies that justify the greater effectiveness of drug combinations, and this strategy appears to be that on which the selection of antihypertensive medication may be increasingly based”