The cardiovascular risk panel, frequently requested by couples with repeating pregnancy losses, has started in our Center. Today, the test is frequently used for determining the susceptibility to cardiovascular diseases. Within the scope of the test, the following genetic zones can be evaluated and 12 different mutations (genetic mutations) occurring at 10 different genetic zones can be examined.
1) Factor V G1691A (Leiden): The zone containing G1619A mutations causing the formation of Factor V Leiden is one of three sections where Active Protein C (APC) destroys Factor Va. As a result of mutation, resistance against APC develops and Factor V Leiden is destroyed 10 times slower compared to Factor Va and remains in the circulation for a longer time. While venous thrombosis risk in patients with heterozygote mutation slightly increases (3-5 times), the risk in patients with homozygote increases significantly (up to 20 times). The prevalence of the mutation in our society is 5,2%.
2) Factor V H1299R (R2): This mutation causes a lighter APC resistance.
3) Prothrombin G20210A: Although the results on susceptibility to thrombosis in patients with heterozygote mutation are disputed, the patients with homozygote mutation have an increased risk for arterial and venous thrombosis. The relation of the mutation with fatal losses is also displayed. The prevalence of the mutation in our society is 2,6%.
4) Factor XIII V34L: The mutation causes increased Factor XIII activity.
5) Fibrinogen -455 G-A: The patients carrying this promotor zone mutation as heterozygote have increased fibrinogen levels. The increase is more obvious in patients carrying it as homozygote. There is particularly an increased ischemic stroke risk for the patients carrying the mutation.
6) PAI-1 4G-5G: This is the single nucleotide deletion/insertion (4G/5G) mutation. As a result of 4G deletion mutation, the fibrinolytic activity is impaired depending to the increase in the concentration of Plasminogen Activator Inhibitor 1 (PAI1) and the susceptibility to thrombotic cases increases.
7) GPIIIa L33P (HPA-1): Glicoprotein IIIa (GPIIIa) is a fibrinogen receptor located on the platelet membrane. It is expressed as normal allele A1(a). A2 (b) allele is important related to susceptibility to acute coronary cases, myocardium infarct and stroke at early ages.
8) MTHFR C677T: The enzyme in patients carrying allele T instead of allele A at 677th position in Methylenetetrahydrofolate reductase (MTHFR) gene is more thermolabile and with less activity. This causes a decrease in folate concentration and an increase in homocysteine concentration. It’s known that the increase in homocysteine concentration causes thromboembolism and atherosclerosis.
9) MTHFR A1298C: It causes an increase in the concentration of plasma homocysteine.
10)ACE I/D: This is a polymorphism related to deletion/insertion of a sequence of 250 bp on 16th intron of ACE gene. ACE gene creates angiotensin II, which is a potent vasopressor. It also inactivates the bradykinin (vasodilator). The serum concentration in DD versions is twice the concentration of II. The enzyme level of ID versions is at intermediate level.
11) ApoB R3500Q: Apo B 100 is the main apoliprotein of LDL and works as ligand for LDL receptor. The mutation causes a delay in binding of LDL to the receptor and the cleaning of LDL decreases, As a result, the susceptibility to atherosclerosis and cardiovascular diseases increases.
12) ApoE (E2, E3, E4): As it works as a ligand for LDL, similar to ApoB, the binding of LDL to the receptor and removal from the environment decreases in patients with mutation E4 allele. As a result, the susceptibility to atherosclerosis and cardiovascular diseases increases. The normal allele is E3. The lowest cholesterol amount is related to E2 allele.
