Abstract 1809: Prothrombin G20210A And Risk Of Venous Thromboembolism, Ischemic Heart Disease And Ischemic Cerebrovascular Disease In The General Population
Background: We tested the hypotheses that Prothrombin G20210A heterozygosity associate with increased risk of venous thromboembolism (VTE), ischemic heart disease (IHD), and ischemic cerebrovascular disease (ICVD) in the general population and re-tested risk of IHD and ICVD in two case-control studies.
Methods: We genotyped for prothrombin G20210A, Factor V Leiden and methyltetrahydrofolate (MTHFR) C677T in 9,231 individuals from the Danish general population followed for a median of 24 years for these endpoints, as well as 2461 independent IHD cases and 867 independent ICVD cases.
Results: In the general population, multifactorially adjusted hazard ratios for prothrombin G20210A heterozygotes (2.1%) versus non-carriers (97.9%) were 1.3 (95% CI:0.6–2.9) for VTE, 0.6 (0.2–2.0) for DVT, 1.7(0.6 – 4.8) for PE, 1.5(1.1–2.1) for IHD, 1.7(1.1–2.7) for MI, 1.1(0.6 –1.9) for ICVD, and 1.1(0.5–2.2) for IS. Double heterozygotes for prothrombin G20210A and Factor V Leiden versus double non-carriers had a multifactorially adjusted hazard ratio for IHD of 6.0(2.0 –19); equivalent values for coexistance of prothrombin G20210A heterozygosity with MTHFR C677T heterozygosity and homozygosity were 1.9(1.2–3.0) and 2.1(0.8 –5.1). In case-control studies, multifactorially adjusted odds ratios for prothrombin G20210A heterozygotes versus non-carriers were 2.0(1.1–3.4) for IHD, 2.0(1.0 –3.8) for MI, 1.4(0.7–3.1) for ICVD, and 2.1(0.8 –5.4) for IS.
Conclusions: Prothrombin G20210A heterozygosity alone and together with MTHFR C677T and Factor V Leiden R506Q heterozygosity predict 1.5, 1.9 and 6-fold risk of IHD in the general population, respectively.