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Thrombosis risk in single- and double-heterozygous carriers of factor V Leiden and prothrombin G20210A in FinnGen and the UK Biobank.

Blood - 6 Jun 2024

Ryu Justine, Rämö Joel T, Jurgens Sean J, Niiranen Teemu, Sanna-Cherchi Simone, Bauer Kenneth A, Haj Amelia, Choi Seung Hoan, Palotie Aarno, Daly Mark, Ellinor Patrick T, Bendapudi Pavan K

Abstract excerpt

ABSTRACT: The factor V Leiden (FVL; rs6025) and prothrombin G20210A (PTGM; rs1799963) polymorphisms are 2 of the most well-studied genetic risk factors for venous thromboembolism (VTE). However, double heterozygosity (DH) for FVL and PTGM remains poorly understood, with previous studies showing marked disagreement regarding thrombosis risk conferred by the DH genotype. Using multidimensional data from the UK...

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PMID: 38498041
DOI: 10.1182/blood.2023023326

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