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21/01/2019

Sant Pau Publishes Circulation

The study published in the journal Circulation and led by Dr. Maria Sabater Lleal, researcher Miquel Servet and recently incorporated into the group of the Genomics Unit of Complex Diseases of the IIB Sant Pau, is a meta-analysis of global data of the genome carried out with the CHARGE consortium (Cohorts for Heart and Aging Research in Genomic Epidemiology) with more than 46,000 individuals analyzed.

“Genome-wide association trans-ethnic meta-analyses identifi novela associations Regulating coagulation Factor VIII and von Willebrand Factor plasma levels” is the title of the work done largely at the Karolinska Institutet in Stockholm by Dr. Sabater and supervised by Professor Nicholas L. Smith of the University of Washington.

The work identifies new genes regulating the levels of factor VIII and factor von Willebrand in plasma, and demonstrates a causal effect of these coagulation proteins in thrombotic pathology, specifically in coronary diseases, ischemic stroke and venous thrombosis.

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