Literature DB >> 25779970

Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.

Weihong Tang1, Mary Cushman2,3, David Green4, Stephen S Rich5, Leslie A Lange6, Qiong Yang7, Russell P Tracy8,9, Geoffrey H Tofler10, Saonli Basu11, James G Wilson12, Brendan J Keating13, Lu-Chen Weng1, Herman A Taylor14, David R Jacobs1, Joseph A Delaney15, Cameron D Palmer16, Taylor Young16, James S Pankow1, Christopher J O'Donnell17, Nicholas L Smith15,18,19, Alexander P Reiner15, Aaron R Folsom1.   

Abstract

Coagulation factor VIII and von Willebrand factor (VWF) are key proteins in procoagulant activation. Higher FVIII coagulant activity (FVIII :C) and VWF antigen (VWF :Ag) are risk factors for cardiovascular disease and venous thromboembolism. Beyond associations with ABO blood group, genetic determinants of FVIII and VWF are not well understood, especially in non European-American populations. We performed a genetic association study of FVIII :C and VWF:Ag that assessed 50,000 gene-centric single nucleotide polymorphisms (SNPs) in 18,556 European Americans (EAs) and 5,047 African Americans (AAs) from five population-based cohorts. Previously unreported associations for FVIII :C were identified in both AAs and EAs with KNG1 (most significantly associated SNP rs710446, Ile581Thr, Ile581Thr, P = 5.10 × 10(-7) in EAs and P = 3.88 × 10(-3) in AAs) and VWF rs7962217 (Gly2705Arg,P = 6.30 × 10(-9) in EAs and P = 2.98 × 10(-2) in AAs. Significant associations for FVIII :C were also observed with F8/TMLHE region SNP rs12557310 in EAs (P = 8.02 × 10(-10) ), with VWF rs1800380 in AAs (P = 5.62 × 10(-11) ), and with MAT1A rs2236568 in AAs (P51.69 × 10(-6) ). We replicated previously reported associations of FVIII :C and VWF :Ag with the ABO blood group, VWF rs1063856(Thr789Ala), rs216321 (Ala852Gln), and VWF rs2229446 (Arg2185Gln). Findings from this study expand our understanding of genetic influences for FVIII :C and VWF :Ag in both EAs and AAs.
© 2015 Wiley Periodicals, Inc.

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 25779970      PMCID： PMC4747096          DOI： 10.1002/ajh.24005

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   13.265


  54 in total

1.  Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.

Authors:  Weihong Tang; Christine Schwienbacher; Lorna M Lopez; Yoav Ben-Shlomo; Tiphaine Oudot-Mellakh; Andrew D Johnson; Nilesh J Samani; Saonli Basu; Martin Gögele; Gail Davies; Gordon D O Lowe; David-Alexandre Tregouet; Adrian Tan; James S Pankow; Albert Tenesa; Daniel Levy; Claudia B Volpato; Ann Rumley; Alan J Gow; Cosetta Minelli; John W G Yarnell; David J Porteous; John M Starr; John Gallacher; Eric Boerwinkle; Peter M Visscher; Peter P Pramstaller; Mary Cushman; Valur Emilsson; Andrew S Plump; Nena Matijevic; Pierre-Emmanuel Morange; Ian J Deary; Andrew A Hicks; Aaron R Folsom
Journal:  Am J Hum Genet       Date:  2012-06-14       Impact factor: 11.025

Review 2.  Homocysteine and thrombosis: from basic science to clinical evidence.

Authors:  Anetta Undas; Jan Brozek; Andrzej Szczeklik
Journal:  Thromb Haemost       Date:  2005-11       Impact factor: 5.249

3.  A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.

Authors:  Weihong Tang; Martina Teichert; Daniel I Chasman; John A Heit; Pierre-Emmanuel Morange; Guo Li; Bruno H Ch Stricker; Paul M Ridker; Aaron R Folsom; Nicholas L Smith; Nathan Pankratz; Frank W Leebeek; Guillaume Paré; Mariza de Andrade; Christophe Tzourio; Bruce M Psaty; Saonli Basu; Rikje Ruiter; Lynda Rose; Sebastian M Armasu; Thomas Lumley; Susan R Heckbert; André G Uitterlinden; Mark Lathrop; Kenneth M Rice; Mary Cushman; Albert Hofman; Jean-Charles Lambert; Nicole L Glazer; James S Pankow; Jacqueline C Witteman; Philippe Amouyel; Joshua C Bis; Edwin G Bovill; Xiaoxiao Kong; Russell P Tracy; Eric Boerwinkle; Jerome I Rotter; David-Alexandre Trégouët; Daan W Loth
Journal:  Genet Epidemiol       Date:  2013-05-05       Impact factor: 2.135

4.  A genome-wide association study identifies KNG1 as a genetic determinant of plasma factor XI Level and activated partial thromboplastin time.

Authors:  Maria Sabater-Lleal; Angel Martinez-Perez; Alfonso Buil; Lasse Folkersen; Juan Carlos Souto; Maria Bruzelius; Montserrat Borrell; Jacob Odeberg; Angela Silveira; Per Eriksson; Laura Almasy; Anders Hamsten; José Manuel Soria
Journal:  Arterioscler Thromb Vasc Biol       Date:  2012-06-14       Impact factor: 8.311

5.  A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.

Authors:  J A Heit; S M Armasu; Y W Asmann; J M Cunningham; M E Matsumoto; T M Petterson; M De Andrade
Journal:  J Thromb Haemost       Date:  2012-08       Impact factor: 5.824

6.  Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Authors:  Q Y Wang; J Song; R A Gibbs; E Boerwinkle; J F Dong; F L Yu
Journal:  J Thromb Haemost       Date:  2013-02       Impact factor: 5.824

7.  Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.

Authors:  Jill M Johnsen; Paul L Auer; Alanna C Morrison; Shuo Jiao; Peng Wei; Jeffrey Haessler; Keolu Fox; Sean R McGee; Joshua D Smith; Christopher S Carlson; Nicholas Smith; Eric Boerwinkle; Charles Kooperberg; Deborah A Nickerson; Stephen S Rich; David Green; Ulrike Peters; Mary Cushman; Alex P Reiner
Journal:  Blood       Date:  2013-05-20       Impact factor: 22.113

8.  Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.

Authors:  Karl C Desch; Ayse B Ozel; David Siemieniak; Yossi Kalish; Jordan A Shavit; Courtney D Thornburg; Anjali A Sharathkumar; Caitlin P McHugh; Cathy C Laurie; Andrew Crenshaw; Daniel B Mirel; Yoonhee Kim; Cheryl D Cropp; Anne M Molloy; Peadar N Kirke; Joan E Bailey-Wilson; Alexander F Wilson; James L Mills; John M Scott; Lawrence C Brody; Jun Z Li; David Ginsburg
Journal:  Proc Natl Acad Sci U S A       Date:  2012-12-24       Impact factor: 11.205

9.  von Willebrand factor plasma levels, genetic variations and coronary heart disease in an older population.

Authors:  J E van Loon; M Kavousi; F W G Leebeek; J F Felix; A Hofman; J C M Witteman; M P M de Maat
Journal:  J Thromb Haemost       Date:  2012-07       Impact factor: 5.824

10.  A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.

Authors:  Tom R Gaunt; Gordon D O Lowe; Debbie A Lawlor; Juan-Pablo Casas; Ian N M Day
Journal:  Eur J Hum Genet       Date:  2012-11-28       Impact factor: 4.246
View more
  8 in total

1.  Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels.

Authors:  Bengt Sennblad; Saonli Basu; Johanna Mazur; Pierre Suchon; Angel Martinez-Perez; Astrid van Hylckama Vlieg; Vinh Truong; Yuhuang Li; Jesper R Gådin; Weihong Tang; Vera Grossman; Hugoline G de Haan; Niklas Handin; Angela Silveira; Juan Carlos Souto; Anders Franco-Cereceda; Pierre-Emmanuel Morange; France Gagnon; Jose Manuel Soria; Per Eriksson; Anders Hamsten; Lars Maegdefessel; Frits R Rosendaal; Philipp Wild; Aaron R Folsom; David-Alexandre Trégouët; Maria Sabater-Lleal
Journal:  Hum Mol Genet       Date:  2017-02-01       Impact factor: 6.150

2.  Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.

Authors:  Nathan Pankratz; Peng Wei; Jennifer A Brody; Ming-Huei Chen; Paul S de Vries; Jennifer E Huffman; Mary Rachel Stimson; Paul L Auer; Eric Boerwinkle; Mary Cushman; Moniek P M de Maat; Aaron R Folsom; Oscar H Franco; Richard A Gibbs; Kelly K Haagenson; Albert Hofman; Jill M Johnsen; Christie L Kovar; Robert Kraaij; Barbara McKnight; Ginger A Metcalf; Donna Muzny; Bruce M Psaty; Weihong Tang; André G Uitterlinden; Jeroen G J van Rooij; Abbas Dehghan; Christopher J O'Donnell; Alex P Reiner; Alanna C Morrison; Nicholas L Smith
Journal:  Hum Mol Genet       Date:  2022-09-10       Impact factor: 5.121

3.  Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans.

Authors:  Laura M Raffield; Ake T Lu; Mindy D Szeto; Amarise Little; Kelsey E Grinde; Jessica Shaw; Paul L Auer; Mary Cushman; Steve Horvath; Marguerite R Irvin; Ethan M Lange; Leslie A Lange; Deborah A Nickerson; Timothy A Thornton; James G Wilson; Marsha M Wheeler; Neil A Zakai; Alex P Reiner
Journal:  J Thromb Haemost       Date:  2020-02-20       Impact factor: 5.824

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

Authors:  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
Journal:  Blood       Date:  2015-06-23       Impact factor: 22.113

5.  Genomic Contributors to Rhythm Outcome of Atrial Fibrillation Catheter Ablation - Pathway Enrichment Analysis of GWAS Data.

Authors:  Daniela Husser; Petra Büttner; Laura Ueberham; Borislav Dinov; Philipp Sommer; Arash Arya; Gerhard Hindricks; Andreas Bollmann
Journal:  PLoS One       Date:  2016-11-21       Impact factor: 3.240

Review 6.  Regulation of plasma von Willebrand factor.

Authors:  Karl C Desch
Journal:  F1000Res       Date:  2018-01-23

7.  Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD.

Authors:  Veronica H Flood; Jill M Johnsen; Caroline Kochelek; Tricia L Slobodianuk; Pamela A Christopherson; Sandra L Haberichter; Rupa Udani; Daniel B Bellissimo; Kenneth D Friedman; Robert R Montgomery
Journal:  Res Pract Thromb Haemost       Date:  2018-01-23

8.  The role of haematological traits in risk of ischaemic stroke and its subtypes.

Authors:  Eric L Harshfield; Matthew C Sims; Matthew Traylor; Willem H Ouwehand; Hugh S Markus
Journal:  Brain       Date:  2020-01-01       Impact factor: 13.501
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.