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Genome-wide analysis of genetic determinants of circulating factorVII-activating protease (FSAP) activity

Journal article
Authors Maja Olsson
Tara M Stanne
Annie Pedersen
Erik Lorentzen
E. Kara
A. Martinez-Palacian
N. P. R. Sand
A. F. Jacobsen
P. M. Sandset
J. J. Sidelmann
G. Engstrom
O. Melander
S. M. Kanse
Christina Jern
Published in Journal of Thrombosis and Haemostasis
Volume 16
Issue 10
Pages 2024-2034
ISSN 1538-7933
Publication year 2018
Published at Institute of Biomedicine, Department of Pathology
Core Facilities, Bioinformatics
Pages 2024-2034
Language en
Keywords blood coagulation factors, epidemiology, genetic variation, hemostasis, plasma, marburg-i polymorphism, recurrent venous thromboembolism, vascular, smooth-muscle, factor-vii, ischemic-stroke, oral-contraceptives, neointima formation, cell-proliferation, liver fibrosis, tissue factor, Hematology, Cardiovascular System & Cardiology
Subject categories Cardiac and Cardiovascular Systems, Hematology


Background FactorVII-activating protease (FSAP) has roles in both coagulation and fibrinolysis. Recent data indicate its involvement in several other processes, such as vascular remodeling and inflammation. Plasma FSAP activity is highly variable among healthy individuals and, apart from the low-frequency missense variant Marburg-I (rs7080536) in the FSAP-encoding gene HABP2, determinants of this variation are unclear. Objectives To identify novel genetic variants within and outside of the HABP2 locus that influence circulating FSAP activity. Patients/Methods We performed an exploratory genome-wide association study (GWAS) on plasma FSAP activity amongst 3230 Swedish subjects. Directly genotyped rare variants were also analyzed with gene-based tests. Using GWAS, we confirmed the strong association between the Marburg-I variant and FSAP activity. HABP2 was also significant in the gene-based analysis, and remained significant after exclusion of Marburg-I carriers. This was attributable to a rare HABP2 stop variant (rs41292628). Carriers of this stop variant showed a similar reduction in FSAP activity as Marburg-I carriers, and this finding was replicated. A secondary genome-wide significant locus was identified at a 5p15 locus (rs35510613), and this finding requires future replication. This common variant is located upstream of ADCY2, which encodes a protein catalyzing the formation of cAMP. Results and Conclusions This study verified the Marburg-I variant to be a strong regulator of FSAP activity, and identified an HABP2 stop variant with a similar impact on FSAP activity. A novel locus near ADCY2 was identified as a potential additional regulator of FSAP activity.

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