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 Qi; Bengt 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

doi:10.1182/blood-2015-02-624551

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

Public Health Sciences

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39 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 language	English (US)
Pages (from-to)	e19-e29
Journal	Blood
Volume	126
Issue number	11
DOIs	https://doi.org/10.1182/blood-2015-02-624551
State	Published - Sep 10 2015

ASJC Scopus subject areas

Hematology
Biochemistry
Cell Biology
Immunology

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10.1182/blood-2015-02-624551

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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

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

In: Blood, Vol. 126, No. 11, 10.09.2015, p. e19-e29.

Research output: Contribution to journal › Article › peer-review

Huffman, JE, De Vries, PS, Morrison, AC, Sabater-Lleal, M, Kacprowski, T, Auer, PL, Brody, JA, Chasman, DI, Chen, MH, Guo, X, Lin, LA, Marioni, RE, Müller-Nurasyid, M, Yanek, LR, Pankratz, N, Grove, ML, De Maat, MPM, Cushman, M, Wiggins, KL, Qi, L, Sennblad, B, Harris, SE, Polasek, O, Riess, H, Rivadeneira, F, Rose, LM, Goel, A, Taylor, KD, Teumer, A, Uitterlinden, AG, Vaidya, D, Yao, J, Tang, W, Levy, D, Waldenberger, M, Becker, DM, Folsom, AR, Giulianini, F, Greinacher, A, Hofman, A, Huang, CC, Kooperberg, C, Silveira, A, Starr, JM, Strauch, K, Strawbridge, RJ, Wright, AF, McKnight, B, Franco, OH, Zakai, N, Mathias, RA, Psaty, BM, Ridker, PM, Tofler, GH, Völker, U, Watkins, H, Fornage, M, Hamsten, A, Deary, IJ, Boerwinkle, E, Koenig, W, Rotter, JI, Hayward, C, Dehghan, A, Reiner, AP, O'Donnell, CJ & Smith, NL 2015, 'Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF', Blood, vol. 126, no. 11, pp. e19-e29. https://doi.org/10.1182/blood-2015-02-624551

Huffman, Jennifer E. ; De Vries, Paul S. ; Morrison, Alanna C. ; Sabater-Lleal, Maria ; Kacprowski, Tim ; Auer, Paul L. ; Brody, Jennifer A. ; Chasman, Daniel I. ; Chen, Ming Huei ; Guo, Xiuqing ; Lin, Li An ; Marioni, Riccardo E. ; Müller-Nurasyid, Martina ; Yanek, Lisa R. ; Pankratz, Nathan ; Grove, Megan L. ; De Maat, Moniek P M ; Cushman, Mary ; Wiggins, Kerri L. ; Qi, Lihong ; Sennblad, Bengt ; Harris, Sarah E. ; Polasek, Ozren ; Riess, Helene ; Rivadeneira, Fernando ; Rose, Lynda M. ; Goel, Anuj ; Taylor, Kent D. ; Teumer, Alexander ; Uitterlinden, André G. ; Vaidya, Dhananjay ; Yao, Jie ; Tang, Weihong ; Levy, Daniel ; Waldenberger, Melanie ; Becker, Diane M. ; Folsom, Aaron R. ; Giulianini, Franco ; Greinacher, Andreas ; Hofman, Albert ; Huang, Chiang Ching ; Kooperberg, Charles ; Silveira, Angela ; Starr, John M. ; Strauch, Konstantin ; Strawbridge, Rona J. ; Wright, Alan F. ; McKnight, Barbara ; Franco, Oscar H. ; Zakai, Neil ; Mathias, Rasika A. ; Psaty, Bruce M. ; Ridker, Paul M. ; Tofler, Geoffrey H. ; Völker, Uwe ; Watkins, Hugh ; Fornage, Myriam ; Hamsten, Anders ; Deary, Ian J. ; Boerwinkle, Eric ; Koenig, Wolfgang ; Rotter, Jerome I. ; Hayward, Caroline ; Dehghan, Abbas ; Reiner, Alex P. ; O'Donnell, Christopher J. ; Smith, Nicholas L. / Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. In: Blood. 2015 ; Vol. 126, No. 11. pp. e19-e29.

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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 ",

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AU - Huffman, Jennifer E.

AU - De Vries, Paul S.

AU - Morrison, Alanna C.

AU - Sabater-Lleal, Maria

AU - Kacprowski, Tim

AU - Auer, Paul L.

AU - Brody, Jennifer A.

AU - Chasman, Daniel I.

AU - Chen, Ming Huei

AU - Guo, Xiuqing

AU - Lin, Li An

AU - Marioni, Riccardo E.

AU - Müller-Nurasyid, Martina

AU - Yanek, Lisa R.

AU - Pankratz, Nathan

AU - Grove, Megan L.

AU - De Maat, Moniek P M

AU - Cushman, Mary

AU - Wiggins, Kerri L.

AU - Qi, Lihong

AU - Sennblad, Bengt

AU - Harris, Sarah E.

AU - Polasek, Ozren

AU - Riess, Helene

AU - Rivadeneira, Fernando

AU - Rose, Lynda M.

AU - Goel, Anuj

AU - Taylor, Kent D.

AU - Teumer, Alexander

AU - Uitterlinden, André G.

AU - Vaidya, Dhananjay

AU - Yao, Jie

AU - Tang, Weihong

AU - Levy, Daniel

AU - Waldenberger, Melanie

AU - Becker, Diane M.

AU - Folsom, Aaron R.

AU - Giulianini, Franco

AU - Greinacher, Andreas

AU - Hofman, Albert

AU - Huang, Chiang Ching

AU - Kooperberg, Charles

AU - Silveira, Angela

AU - Starr, John M.

AU - Strauch, Konstantin

AU - Strawbridge, Rona J.

AU - Wright, Alan F.

AU - McKnight, Barbara

AU - Franco, Oscar H.

AU - Zakai, Neil

AU - Mathias, Rasika A.

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AU - Ridker, Paul M.

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AU - Koenig, Wolfgang

AU - Rotter, Jerome I.

AU - Hayward, Caroline

AU - Dehghan, Abbas

AU - Reiner, Alex P.

AU - O'Donnell, Christopher J.

AU - Smith, Nicholas L.

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

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