Pretraga

Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 1252494

Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels

(INVENT Consortium ; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC)) Sabater-Lleal, Maria; Huffman, Jennifer E.; de Vries, Paul S.; Marten, Jonathan; Mastrangelo, Michael A.; Song, Ci; Pankratz, Nathan; Ward-Caviness, Cavin K.; Yanek, Lisa R.; Trompet, Stella et al.
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels // Circulation, 139 (2019), 5; 620-635 doi:10.1161/circulationaha.118.034532 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1252494 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels

Autori
Sabater-Lleal, Maria ; Huffman, Jennifer E. ; de Vries, Paul S. ; Marten, Jonathan ; Mastrangelo, Michael A. ; Song, Ci ; Pankratz, Nathan ; Ward-Caviness, Cavin K. ; Yanek, Lisa R. ; Trompet, Stella ; Delgado, Graciela E. ; Guo, Xiuqing ; Bartz, Traci M. ; Martinez-Perez, Angel ; Germain, Marine ; de Haan, Hugoline G. ; Ozel, Ayse B. ; Polašek, Ozren ; Smith, Albert V. ; Eicher, John D. ; Reiner, Alex P. ; Tang, Weihong ; Davies, Neil M. ; Stott, David J. ; Rotter, Jerome I. ; Tofler, Geoffrey H. ; Boerwinkle, Eric ; de Maat, Moniek P.M. ; Kleber, Marcus E. ; Welsh, Paul ; Brody, Jennifer A. ; Chen, Ming-Huei ; Vaidya, Dhananjay ; Soria, José Manuel ; Suchon, Pierre ; van Hylckama Vlieg, Astrid ; Desch, Karl C. ; Kolčić, Ivana ; Joshi, Peter K. ; Launer, Lenore J. ; Harris, Tamara B. ; Campbell, Harry ; Rudan, Igor ; Becker, Diane M. ; Li, Jun Z. ; Rivadeneira, Fernando ; Uitterlinden, André G. ; Hofman, Albert ; Franco, Oscar H. ; Cushman, Mary ; Psaty, Bruce M. ; Morange, Pierre-Emmanuel ; McKnight, Barbara ; Chong, Michael R. ; Fernandez-Cadenas, Israel ; Rosand, Jonathan ; Lindgren, Arne ; Gudnason, Vilmundur ; Wilson, James F. ; Hayward, Caroline ; Ginsburg, David ; Fornage, Myriam ; Rosendaal, Frits R. ; Souto, Juan Carlos ; Becker, Lewis C. ; Jenny, Nancy S. ; März, Winfried ; Jukema, J. Wouter ; Dehghan, Abbas ; Trégouët, David-Alexandre ; Morrison, Alanna C. ; Johnson, Andrew D. ; O’Donnell, Christopher J. ; Strachan, David P. ; Lowenstein, Charles J. ; Smith, Nicholas L. ; INVENT Consortium ; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC)

Kolaboracija
INVENT Consortium ; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC)

Izvornik
Circulation (0009-7322) 139 (2019), 5; 620-635

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
cardiovascular diseases ; factor VIII ; genome-wide association studies ; genetics ; risk factors ; von Willebrand factor

Sažetak
Background: Factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are associated with risk of arterial and venous thrombosis and with hemorrhagic disorders. We aimed to identify and functionally test novel genetic associations regulating plasma FVIII and VWF. Methods: We meta- analyzed genome-wide association results from 46354 individuals of European, African, East Asian, and Hispanic ancestry. All studies performed linear regression analysis using an additive genetic model and associated approximate to 35 million imputed variants with natural log- transformed phenotype levels. In vitro gene silencing in cultured endothelial cells was performed for candidate genes to provide additional evidence on association and function. Two-sample Mendelian randomization analyses were applied to test the causal role of FVIII and VWF plasma levels on the risk of arterial and venous thrombotic events. Results: We identified 13 novel genome-wide significant (P2.5x10(-8)) associations, 7 with FVIII levels (FCHO2/TMEM171/TNPO1, HLA, SOX17/RP1, LINC00583/NFIB, RAB5C-KAT2A, RPL3/TAB1/SYNGR1, and ARSA) and 11 with VWF levels (PDHB/PXK/KCTD6, SLC39A8, FCHO2/TMEM171/TNPO1, HLA, GIMAP7/GIMAP4, OR13C5/NIPSNAP, DAB2IP, C2CD4B, RAB5C-KAT2A, TAB1/SYNGR1, and ARSA), beyond 10 previously reported associations with these phenotypes. Functional validation provided further evidence of association for all loci on VWF except ARSA and DAB2IP. Mendelian randomization suggested causal effects of plasma FVIII activity levels on venous thrombosis and coronary artery disease risk and plasma VWF levels on ischemic stroke risk. Conclusions: The meta-analysis identified 13 novel genetic loci regulating FVIII and VWF plasma levels, 10 of which we validated functionally. We provide some evidence for a causal role of these proteins in thrombotic events.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Ivana Kolčić (autor)

Avatar Url Ozren Polašek (autor)

Poveznice na cjeloviti tekst rada:

doi www.ahajournals.org

Citiraj ovu publikaciju:

(INVENT Consortium ; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC)) Sabater-Lleal, Maria; Huffman, Jennifer E.; de Vries, Paul S.; Marten, Jonathan; Mastrangelo, Michael A.; Song, Ci; Pankratz, Nathan; Ward-Caviness, Cavin K.; Yanek, Lisa R.; Trompet, Stella et al.
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels // Circulation, 139 (2019), 5; 620-635 doi:10.1161/circulationaha.118.034532 (međunarodna recenzija, članak, znanstveni)
(INVENT Consortium ; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC)) (INVENT Consortium, MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC)) Sabater-Lleal, M., Huffman, J., de Vries, P., Marten, J., Mastrangelo, M., Song, C., Pankratz, N., Ward-Caviness, C., Yanek, L. & Trompet, S. (2019) Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. Circulation, 139 (5), 620-635 doi:10.1161/circulationaha.118.034532.
@article{article, author = {Sabater-Lleal, Maria and Huffman, Jennifer E. and de Vries, Paul S. and Marten, Jonathan and Mastrangelo, Michael A. and Song, Ci and Pankratz, Nathan and Ward-Caviness, Cavin K. and Yanek, Lisa R. and Trompet, Stella and Delgado, Graciela E. and Guo, Xiuqing and Bartz, Traci M. and Martinez-Perez, Angel and Germain, Marine and de Haan, Hugoline G. and Ozel, Ayse B. and Pola\v{s}ek, Ozren and Smith, Albert V. and Eicher, John D. and Reiner, Alex P. and Tang, Weihong and Davies, Neil M. and Stott, David J. and Rotter, Jerome I. and Tofler, Geoffrey H. and Boerwinkle, Eric and de Maat, Moniek P.M. and Kleber, Marcus E. and Welsh, Paul and Brody, Jennifer A. and Chen, Ming-Huei and Vaidya, Dhananjay and Soria, Jos\'{e} Manuel and Suchon, Pierre and van Hylckama Vlieg, Astrid and Desch, Karl C. and Kol\v{c}i\'{c}, Ivana and Joshi, Peter K. and Launer, Lenore J. and Harris, Tamara B. and Campbell, Harry and Rudan, Igor and Becker, Diane M. and Li, Jun Z. and Rivadeneira, Fernando and Uitterlinden, Andr\'{e} G. and Hofman, Albert and Franco, Oscar H. and Cushman, Mary and Psaty, Bruce M. and Morange, Pierre-Emmanuel and McKnight, Barbara and Chong, Michael R. and Fernandez-Cadenas, Israel and Rosand, Jonathan and Lindgren, Arne and Gudnason, Vilmundur and Wilson, James F. and Hayward, Caroline and Ginsburg, David and Fornage, Myriam and Rosendaal, Frits R. and Souto, Juan Carlos and Becker, Lewis C. and Jenny, Nancy S. and M\"{a}rz, Winfried and Jukema, J. Wouter and Dehghan, Abbas and Tr\'{e}gou\"{e}t, David-Alexandre and Morrison, Alanna C. and Johnson, Andrew D. and O’Donnell, Christopher J. and Strachan, David P. and Lowenstein, Charles J. and Smith, Nicholas L.}, year = {2019}, pages = {620-635}, DOI = {10.1161/circulationaha.118.034532}, keywords = {cardiovascular diseases, factor VIII, genome-wide association studies, genetics, risk factors, von Willebrand factor}, journal = {Circulation}, doi = {10.1161/circulationaha.118.034532}, volume = {139}, number = {5}, issn = {0009-7322}, title = {Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels}, keyword = {cardiovascular diseases, factor VIII, genome-wide association studies, genetics, risk factors, von Willebrand factor} }
@article{article, author = {Sabater-Lleal, Maria and Huffman, Jennifer E. and de Vries, Paul S. and Marten, Jonathan and Mastrangelo, Michael A. and Song, Ci and Pankratz, Nathan and Ward-Caviness, Cavin K. and Yanek, Lisa R. and Trompet, Stella and Delgado, Graciela E. and Guo, Xiuqing and Bartz, Traci M. and Martinez-Perez, Angel and Germain, Marine and de Haan, Hugoline G. and Ozel, Ayse B. and Pola\v{s}ek, Ozren and Smith, Albert V. and Eicher, John D. and Reiner, Alex P. and Tang, Weihong and Davies, Neil M. and Stott, David J. and Rotter, Jerome I. and Tofler, Geoffrey H. and Boerwinkle, Eric and de Maat, Moniek P.M. and Kleber, Marcus E. and Welsh, Paul and Brody, Jennifer A. and Chen, Ming-Huei and Vaidya, Dhananjay and Soria, Jos\'{e} Manuel and Suchon, Pierre and van Hylckama Vlieg, Astrid and Desch, Karl C. and Kol\v{c}i\'{c}, Ivana and Joshi, Peter K. and Launer, Lenore J. and Harris, Tamara B. and Campbell, Harry and Rudan, Igor and Becker, Diane M. and Li, Jun Z. and Rivadeneira, Fernando and Uitterlinden, Andr\'{e} G. and Hofman, Albert and Franco, Oscar H. and Cushman, Mary and Psaty, Bruce M. and Morange, Pierre-Emmanuel and McKnight, Barbara and Chong, Michael R. and Fernandez-Cadenas, Israel and Rosand, Jonathan and Lindgren, Arne and Gudnason, Vilmundur and Wilson, James F. and Hayward, Caroline and Ginsburg, David and Fornage, Myriam and Rosendaal, Frits R. and Souto, Juan Carlos and Becker, Lewis C. and Jenny, Nancy S. and M\"{a}rz, Winfried and Jukema, J. Wouter and Dehghan, Abbas and Tr\'{e}gou\"{e}t, David-Alexandre and Morrison, Alanna C. and Johnson, Andrew D. and O’Donnell, Christopher J. and Strachan, David P. and Lowenstein, Charles J. and Smith, Nicholas L.}, year = {2019}, pages = {620-635}, DOI = {10.1161/circulationaha.118.034532}, keywords = {cardiovascular diseases, factor VIII, genome-wide association studies, genetics, risk factors, von Willebrand factor}, journal = {Circulation}, doi = {10.1161/circulationaha.118.034532}, volume = {139}, number = {5}, issn = {0009-7322}, title = {Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels}, keyword = {cardiovascular diseases, factor VIII, genome-wide association studies, genetics, risk factors, von Willebrand factor} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

Citati:

    Altmetrijski pokazatelji:


    Podijeli:





    Contrast
    Increase Font
    Decrease Font
    Dyslexic Font
    CROSBI koristi kolačiće (cookies) kako bi poboljšao funkcionalnost stranice.