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Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.
Tang, Weihong; Cushman, Mary; Green, David; Rich, Stephen S; Lange, Leslie A; Yang, Qiong; Tracy, Russell P; Tofler, Geoffrey H; Basu, Saonli; Wilson, James G; Keating, Brendan J; Weng, Lu-Chen; Taylor, Herman A; Jacobs, David R; Delaney, Joseph A; Palmer, Cameron D; Young, Taylor; Pankow, James S; O'Donnell, Christopher J; Smith, Nicholas L; Reiner, Alexander P; Folsom, Aaron R.
Afiliação
  • Tang W; Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, Minnesota.
  • Cushman M; Department of Medicine, University of Vermont, Burlington, Vermont.
  • Green D; Department of Pathology, University of Vermont, Burlington, Vermont.
  • Rich SS; Division of Hematology/Oncology, Department of Medicine, Feinberg School of Medicine of Northwestern University, Chicago, Illinois.
  • Lange LA; Department of Public Health Sciences and the Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia.
  • Yang Q; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
  • Tracy RP; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts.
  • Tofler GH; Department of Pathology, University of Vermont College of Medicine, Burlington, Vermont.
  • Basu S; Department of Biochemistry, University of Vermont College of Medicine, Burlington, Vermont.
  • Wilson JG; Department of Cardiology, Royal North Shore Hospital, University of Sydney, Australia.
  • Keating BJ; Division of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, Minnesota.
  • Weng LC; Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi.
  • Taylor HA; Division of Transplantation, Department of Surgery, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Jacobs DR; Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, Minnesota.
  • Delaney JA; Department of Medicine, Jackson Heart Study, University of Mississippi Medical Center, Jackson, Mississippi.
  • Palmer CD; Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, Minnesota.
  • Young T; Department of Epidemiology, University of Washington, Seattle, Washington.
  • Pankow JS; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • O'Donnell CJ; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts.
  • Smith NL; Division of Epidemiology and Community Health, School of Public Health, University of Minnesota, Minneapolis, Minnesota.
  • Reiner AP; Department of Cardiovascular Epidemiology and Human Genomics, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland.
  • Folsom AR; Department of Epidemiology, University of Washington, Seattle, Washington.
Am J Hematol ; 90(6): 534-40, 2015 Jun.
Article em En | MEDLINE | ID: mdl-25779970
ABSTRACT
Coagulation factor VIII and von Willebrand factor (VWF) are key proteins in procoagulant activation. Higher FVIII coagulant activity (FVIIIC) and VWF antigen (VWFAg) 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 FVIIIC and VWFAg 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 FVIIIC 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 FVIIIC 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 FVIIIC and VWFAg 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 FVIIIC and VWFAg in both EAs and AAs.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Negro ou Afro-Americano / Fator VIII / Fator de von Willebrand / Polimorfismo de Nucleotídeo Único / População Branca Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hematol Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Negro ou Afro-Americano / Fator VIII / Fator de von Willebrand / Polimorfismo de Nucleotídeo Único / População Branca Tipo de estudo: Clinical_trials / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hematol Ano de publicação: 2015 Tipo de documento: Article