Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF

Jennifer E. Huffman, Paul S. De Vries, Alanna C. Morrison, Maria Sabater-Lleal, Tim Kacprowski, Paul L. Auer, Jennifer A. Brody, Daniel I. Chasman, Ming Huei Chen, Xiuqing Guo, Li An Lin, Riccardo E. Marioni, Martina Müller-Nurasyid, Lisa R. Yanek, Nathan Pankratz, Megan L. Grove, Moniek P M De Maat, Mary Cushman, Kerri L. Wiggins, Lihong QiBengt Sennblad, Sarah E. Harris, Ozren Polasek, Helene Riess, Fernando Rivadeneira, Lynda M. Rose, Anuj Goel, Kent D. Taylor, Alexander Teumer, André G. Uitterlinden, Dhananjay Vaidya, Jie Yao, Weihong Tang, Daniel Levy, Melanie Waldenberger, Diane M. Becker, Aaron R. Folsom, Franco Giulianini, Andreas Greinacher, Albert Hofman, Chiang Ching Huang, Charles Kooperberg, Angela Silveira, John M. Starr, Konstantin Strauch, Rona J. Strawbridge, Alan F. Wright, Barbara McKnight, Oscar H. Franco, Neil Zakai, Rasika A. Mathias, Bruce M. Psaty, Paul M. Ridker, Geoffrey H. Tofler, Uwe Völker, Hugh Watkins, Myriam Fornage, Anders Hamsten, Ian J. Deary, Eric Boerwinkle, Wolfgang Koenig, Jerome I. Rotter, Caroline Hayward, Abbas Dehghan, Alex P. Reiner, Christopher J. O'Donnell, Nicholas L. Smith

Research output: Contribution to journalArticle

30 Scopus citations

Abstract

Fibrinogen, coagulation factor VII (FVII), and factor VIII (FVIII) and its carrier von Willebrand factor (vWF) play key roles in hemostasis. Previously identified common variants explain only a small fraction of the trait heritabilities, and additional variations may be explained by associations with rarer variants with larger effects. The aim of this study was to identify low-frequency (minor allele frequency [MAF] ≥0.01 and

Original languageEnglish (US)
Pages (from-to)e19-e29
JournalBlood
Volume126
Issue number11
DOIs
StatePublished - Sep 10 2015

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ASJC Scopus subject areas

  • Hematology
  • Biochemistry
  • Cell Biology
  • Immunology

Cite this

Huffman, J. E., De Vries, P. S., Morrison, A. C., Sabater-Lleal, M., Kacprowski, T., Auer, P. L., Brody, J. A., Chasman, D. I., Chen, M. H., Guo, X., Lin, L. A., Marioni, R. E., Müller-Nurasyid, M., Yanek, L. R., Pankratz, N., Grove, M. L., De Maat, M. P. M., Cushman, M., Wiggins, K. L., ... Smith, N. L. (2015). Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood, 126(11), e19-e29. https://doi.org/10.1182/blood-2015-02-624551