rs10737681 - CFHR1 - CFHR4

Magnitude 2.2 · 1 study on file

Reported associations

• Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism - Unknown journal (n.d.) · Unknown authors · PubMed 37286573

  ABSTRACT: Venous thromboembolism (VTE) is a common, multi-causal disease with potentially serious short- and long-term complications. In clinical practice, there is a need for improved plasma biomarker-based tools for VTE diagnosis and risk prediction. Here we show, using proteomics profiling to screen plasma from patients with suspected acute VTE, and several case-control studies for VTE, how Complement Factor H Related 5 protein (CFHR5), a regulator of the alternative pathway of complement activation, is a VTE-associated plasma biomarker. In plasma, higher CFHR5 levels are associated with increased thrombin generation potential and recombinant CFHR5 enhanced platelet activation in vitro. GWAS analysis of ~52,000 participants identifies six loci associated with CFHR5 plasma levels, but Me

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