IBBIOTECH

Genetic study of cardiovascular risk

Please request a personalized kit for the test.

Obtaining the sample at home.

Cardiovascular illnesses represent the main cause of death in developed countries. There are polygenic illnesses in which as well as the genetic part there are other factors that could influence the developing of illness, such as: age, obesity, hypertension, lack of exercise, smoking and alcohol, among others.

Recent molecular genetic advances and the human genome sequence have made it possible to identify certain genes that will allow us to take a step forward with diagnosis, personalised and accurate treatment of cardiovascular illnesses.

This genetic research has been designed to find out in advanced, if a person has a predisposition to suffer cardiovascular or brain vascular illnesses: strokes, heart attacks, cardiac arrests, and arteriosclerosis and brain vascular accidents.

Indications

This study has been indicated for the following cases:

• Athletes.
• Previous heart attacks records.
• History of cardiovascular illnesses.
• Family history.
• Personal records of cardiovascular illnesses.
• Diabetic people.
• Hypertension sufferers.

The test

The test to determine cardiovascular risks in each person can be done, preferably, through a blood test. Alternatively, patients can also request a personal tester kit that will allow then to collect the necessary samples, in the privacy of their homes, by taking buccal cell samples.

The proceeding is a very simple one. In the kit the person will find sterile cotton buds that need to be rubbed against the inner part of the mouth. These cotton buds must be carefully handled. Do not touch the cotton buds with your fingers. Once the sample has been taken and sealed as directed on the instructions, it needs to be sent to us with the documentation enclosed in the kit, thoroughly filled out.

Please request a personalized kit for the test.

Obtaining the sample at home.

Genetic markers of susceptibility

IB Biotech analyses with this test the following genetic markers that are the most important ones accepted by the scientific community to genetically assess the risk of developing cardiovascular or brain vascular illnesses:

APOE Gene

It encodes the apolipoprotein E that acts as link of the receptor LDL. It also intervenes in the elimination of lipoproteins rich in cholesterol. The allele ?4 of the APOE gene is linked to high levels of cholesterol due to its effects over homeostasis of the lipoproteins as well as the likeliness to suffer cardiovascular illnesses (Talmud et al., 2002).

UCP2 Gene

The production of reactive oxygen species has been linked to the pathogenesis of coronary illnesses. The uncoupling protein 2 reduces the oxidative stress in some tissues, among them endothelial cells. A functional polyformism G/A has been described in position -866 of the gene that modulates the expression of this gene therefore causing arterial oxidative stress (Oberkofler et al., 2005).

APO4 Gene

Apoliprotein A has a very important role in transporting cholesterol. It acts as an inhibiter of the lipid preoxidation which is a key process for the progression of cardiovascular illnesses. Carriers of the APO4 gene variant S347 have lower levels of the Apoliprotein 4 plasma and therefore lower antioxidant capacity, increasing the risk of cardiovascular illnesses (Wong et al., 2004).

LPL Gene

Encodes the lipoprotein lipase, which is the main enzyme of the catabolism of the lipoproteins rich in triglycerides (VLDL and IDL). It eliminates lipoproteins of the circulation. Accumulation of the said lipoproteins has been narrowly related to coronary illnesses. Replacing amino acid 9 in LPL (D9N), results in the diminution of its activity causing a greater progression of the arterial coronary illness and a higher cardiovascular mortality (Humphries. 2003).

IL-6 Gene

Interleukin 6 acts as an inflammatory cytokine. It is a subclinical marker for cardiovascular illnesses, it contributes with the increase of collagen of the vascular walls, inducing the fibrinogen synthesis and increasing blood viscosity. It also stimulates processes that contribute to the formation of atheromatous plaque. The polymorphism -174G>C has been related to a high prevalence with arteriosclerosis, acute myocardial infarction and arterial hypertension (Humphries et al, 2001).

MTHFR Gene

It encodes enzyme 5, 10 methylenetetrahydrofolate reductase (MTHFR) that catalyses the reduction of the 5-10-methylene-tetrahydrofolate (THF) to 5-methyl THF, cosubstrate for the conversion of homocisteine into methionine. Alteration C677T produces an enzyme that easily reacts to heat and that presents a much lower activity resulting in an accumulation of seric homocisteine. Accumulation of homocisteine is directly implicated in the developing of arteriosclerosis and clot formation. Blood with high levels of homocisteine can increase the risk of cardiovascular illnesses, particularly a cardiac illness (like myocardial infarction, brain vascular accident or vascular illnesses) (trabetti, 2008).

Factor V Leiden Gene

It encodes the V clotting factor. The mutation 1691G-A in this gene is the most common genetic cause of vain thrombosis been present in 15-20% of first time cases and in 50% of patients with recurrent thrombosis. It is estimated that the presence of the mutation increases from 4 to 8 times the risk of vain thrombosis in people that carry a copy of the mutation and 80 times in people who carry their two copies with the mutation (Dentali et al., 2007).

Prothrombin Gene

Mutation 20210G-A in the Prothrombin gene (clotting factor II) is associated to cerebral thrombosis (artery or vain) and pulmonary embolia. People who carry this mutation have six times more probability to suffer a thrombosis than the rest of the normal population. Young women who carry the mutation have 4 times the chance to suffer from a myocardial infarction while in men the risk is 1.5 times (Dentali et al., 2007).

ECA Gene

This enzyme acts over the Renin-agiotensin-System which regulates the vascular homodynamic and balances the electrolytes in human body fluids. The presence (insertion I) or lack of (deletion D) of an alu repetitive sequence of 278 pb of total length in the gene’s 16th intron, it’s associated to the enzyme circulant levels and cardiovascular pathologies. Deletion it’s associated to a high predisposition to develop arterial hypertension that favours other cardiovascular pathologies (Franco et al., 2007).

AGTR1 Gene

It encodes the angiotensinogen type 1 receptor. AGTR1 has a very important role in the physiopathology of cardiovascular illnesses and along with ACE they become important for the homeostasis of arterial tension (Franco et al., 2007).

Please request a personalized kit for the test.

Obtaining the sample at home.