A Genome-wide Study of Common and Rare Genetic Variants Associated with Circulating Thrombin Activatable Fibrinolysis Inhibitor.

To determine whether this variant in CPB2 was independent of the two more common amino acid substitutions, we instead conditioned on Thr147Ala (rs3742264) and Thr325Ile (rs1926447) and found that the variant remained significant ( P conditional = 1.66 × 10 −6 ), suggesting that the observed rare variant associations are distinct from known SNPs. In contrast to intact TAFI, for TAFI-AP SKAT-O yielded significant gene-level associations with five genes ( Table 3 ) and only near significance with CPB2 ( P SKAT-O =7.18 × 10 −6 ).

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