Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time

Juan Carlos Souto, Laura Almasy, Eduardo Muñiz-Diaz, José Manuel Soria, Montserrat Borrell, Laia Bayén, José Mateo, Pedro Madoz, William Stone, John Blangero, Jordi Fontcuberta

Research output: Contribution to journalArticlepeer-review

148 Scopus citations

Abstract

Lower levels of factor VIII and von Willebrand factor (vWF) have been reported in individuals with blood type O compared with individuals with other ABO blood types. However, this relationship has been demonstrated only by association studies and not by linkage studies. Also, it is not clear whether the ABO locus exerts a functional effect directly on these plasma factors or whether the ABO locus is in linkage disequilibrium with another locus that controls these factors. To distinguish between these 2 possibilities, we applied new statistical methods combining linkage and association tests in a pedigree-based sample. In contrast to most previous studies that used the ABO phenotypes, our study used the ABO genotypes, permitting us to distinguish AO from AA and BO from BB. Our results clearly showed significant linkage between the ABO locus and vWF antigen (P=0.00075). In addition, factor VIII coagulant activity and activated partial thromboplastin time showed suggestive linkage with the ABO locus (P=0.10 and P=0.13). All 3 plasma phenotypes showed significant differences between OO and non-OO genotypes. In addition, vWF antigen exhibited significant differences between O heterozygotes and non-OO homozygotes. This study is unique because it used a combined linkage and association test, which indicated that the ABO locus itself has a functional effect on these plasma phenotypes.

Original languageEnglish (US)
Pages (from-to)2024-2028
Number of pages5
JournalArteriosclerosis, Thrombosis, and Vascular Biology
Volume20
Issue number8
DOIs
StatePublished - 2000
Externally publishedYes

Keywords

  • ABO blood group
  • Factor VIII
  • Functional polymorphism
  • Genetics
  • Von Willebrand factor

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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