Elucidating mechanisms of genetic cross-disease associations: an integrative approach implicates protein C as a causal pathway in arterial and venous diseases
David Stacey, Lingyan Chen, Joanna M. M. Howson, Amy M. Mason, Stephen Burgess, Stephen G. MacDonald, Jonathan Langdown, Harriet McKinney, Kate Downes, Neda Farahi, James E. Peters, Saonli Basu, James S. Pankow, Nathan Pankratz, Weihong Tang, , Dirk S. Paul
The paper identifies a genetic variant in PROCR that influences protein C and factor VII levels, linking it to both reduced coronary artery disease risk and increased venous thromboembolism risk through opposing inflammatory and thrombotic mechanisms.
medRxiv · Mar 16, 2020 · PreprintGenetic & Genomic Medicine