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Molecular Genetics

Cardiovascular Risc Panel

Factor V G1691A (Leiden) Mutation: Activated protein C (APC) inactivates factor Va and factor VIIIa in the coagulation mechanism. This inhibition does not occur in the presence of factor V mutation, thereby increasing thrombin production and clot formation.

Heterozygous 1691GA: It increases the risk of venous thrombosis 3-8 times, the risk of VTE during pregnancy 8 times, pregnancy loss, fetal growth retardation and preeclampsia risk 2-3 times, placental ablation increases 5 times.

Homozygous 1691AA: It increases the risk of venous thrombosis by 9-80 times, and increases the risk of VTE due to pregnancy by 20-40 times.

Prothrombin G20210A Mutation: increases plasma prothrombin level and causes venous thrombosis tendency. Prothrombin mutation increases the risk of fetal loss, placental ablation, severe preeclampsia and IUGR.

Heterozygote 20210GA: 2-5 times the relative risk of VTE, 15 times the risk of VTE due to pregnancy, 3 times the risk of recurrent first trimester fetal losses, 9 times the risk of recurrent second trimester pregnancy loss, 2-3 times the risk of fetal losses in all trimesters increases .

Homozygous 20210AA: It increases the risk of VTE by 10 times (9) and increases the risk of VTE due to pregnancy by 26 times.

MTHFR C677T Variation: MTHFR decreases enzyme activity and causes the formation of hyperhomocysteinemia and homocysteineuria which are considered as an important risk factor for cardiovascular cerebrovascular diseases. Increased homocysteine concentration may cause thromboembolism, atherosclerosis, coronary artery disease, preeclampsia, neural tube defects and stroke.

Homozygous 677TT: It has been reported to increase the risk of thrombosis by 2-3 times and has an important role in recurrent pregnancy losses.

MTHFR A1298C Variation: Causes an increase in plasma homocysteine concentration. It has been shown that MTHFR activity decreases and homocysteine levels increase in heterozygous A1298C and heterozygous C677T coexistence or homozygous 677TT individuals.

APO-E Genotyping: Apo E genotype has been shown to be associated with both lipid levels and CVD.

ApoE ε2 / ε2: It has been reported that it increases the risk of vascular disease and is a potential risk factor for TGC.

ApoE ε3 / ε3: It is a protective factor for recurrent pregnancy losses.

ApoE ε4 / ε4: It has been shown to increase the risk of death by 40% in CVD and has been found to be associated with TGC.

ApoB R3500Q (Apo B-100) Mutation: ApoB R3500Q (Apo B-100) Mutation: Apo B mutation delays the binding of LDL to the receptor and decreases LDL removal. It increases susceptibility to atherosclerosis and cardiovascular diseases.

PAI 4G / 5G Variation: Increased PAI-1 concentration deteriorates fibrinolytic activity and increases susceptibility to thrombotic events.

PAI 4G/4G Genotype: Increases the risk of thromboembolism, fetal loss, IUGR, preeclampsia and MI.

PAI 4G/5G Genotype: It has been reported that it increases the risk of thrombosis and causes early pregnancy losses especially when seen with prothrombin gene mutation.

ACE Insertion / Deletion Genotyping: ACE gene converts angiotensin I into angiotensin II and encodes the ACE enzyme, which plays an important role in blood pressure regulation and electrolyte balance.

ACE I/D Genotype: Enzyme level is intermediate, increases the risk of thrombotic events 5 times and is a risk factor for recurrent pregnancy losses.

ACE D/D Genotype: Increases the risk of thrombotic events 11 times and increases the risk of hypertension in preeclampsia and pregnancy.

Factor XIII V34L Variation: Factor XIII forms cross-links between fibrin monomers and makes the clot more resistant to fibrinolysis. The G-T change in the gene encoding FXIIIa is the most common mutation. This mutation affects the area where thrombin exhibits proteolytic activity on FXIII, preventing activation of FXIII. It has protective features against myocardial infarction, deep vein thrombosis and pulmonary embolism.