Blood Clotting Genetics

The ACE I/D polymorphism is a widely studied genetic variation in the ACE gene (which encodes the Angiotensin-Converting Enzyme) characterized by the presence (Insertion, I) or absence (Deletion, D) of a 287-base-pair DNA fragment. This genetic variant directly modulates the amount of ACE protein circulating in your body and plays a critical role in cardiovascular health, physical performance, and fluid balance.

The APOB R3500Q mutation (historically named R3500Q and currently classified as p.Arg3527Gln) is a well-documented genetic variant in the APOB gene. It causes a medical condition known as Familial Defective Apolipoprotein B-100 (FDB), which leads to severely elevated cholesterol levels.

The APOE gene (Apolipoprotein E) provides instructions for a protein that packages and moves cholesterol and other lipids through your bloodstream and brain. Because you inherit one copy of this gene from each parent, your APOE status is a combination of two alleles (e.g., E3/E3, E3/E4).The three major variations (E2, E3, and E4) drastically alter your genetic risk for cardiovascular disease and late-onset Alzheimer’s disease.

The Factor II Prothrombin G20210A mutation is an inherited genetic change that causes the body to make too much prothrombin protein, which raises your risk of abnormal blood clots.

Factor V Leiden is a genetic mutation that causes hypercoagulability, an increased tendency for blood to form abnormal and potentially harmful clots. It is the most common hereditary blood-clotting disorder among people of European descent, affecting roughly 3% to 8% of the Caucasian population.

A genetic change in the blood-clotting protein that slightly raises the chance of abnormal blood clots when it happens alongside other mutations like Factor V Leiden.

Factor XIII V34L is a common genetic variation that affects how your blood clots and is generally linked to a lower risk of harmful blood vessel blockages.

The FIBRINOGEN-BETA -455G>A genetic variant (also known as rs1800790) is a single nucleotide polymorphism (SNP) located in the promoter region of the FGB gene, which instructs the body to produce the beta chain of fibrinogen.

The GPIIIa (T1565C) variant is a well-studied genetic polymorphism located within the ITGB3 gene (Integrin Subunit Beta 3), which codes for the beta-3 subunit of the platelet membrane glycoprotein IIb/IIIa receptor complex. This specific single nucleotide polymorphism (SNP) is widely known in clinical literature as the PlA1/PlA2 polymorphism

The MTHFR A1298C variant is a highly common genetic change in the methylenetetrahydrofolate reductase gene, affecting how your body processes folate (Vitamin B9) and manages cellular methylation. In this specific variant, the expected DNA base "A" (adenine) is replaced by "C" (cytosine) at position 1298.

The MTHFR C677T is a common genetic variation (polymorphism) that changes a single building block in the MTHFR gene, reducing the efficiency of an enzyme needed to process folate (vitamin B9)

The PAI-1 4G/5G polymorphism is a common genetic variation in the promoter region of the SERPINE1 gene, which controls the production of Plasminogen Activator Inhibitor-1 (PAI-1). PAI-1 is the primary inhibitor of tissue plasminogen activator (tPA), meaning it blocks the body's ability to dissolve blood clots (fibrinolysis). The single nucleotide deletion/insertion variant creates either a sequence of four guanine bases (4G) or five guanine bases (5G), directly dictating baseline blood clotting tendencies.