Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time

Am J Hum Genet. 2010 Apr 9;86(4):626-31. doi: 10.1016/j.ajhg.2010.02.016. Epub 2010 Mar 18.

Abstract

Activated partial thromboplastin time (aPTT) is associated with risk of thrombosis and coagulation disorders. We conducted a genome-wide association study for aPTT and identified significant associations with SNPs in three coagulation cascade genes, F12 (rs2731672, combined p = 2.16 x 10(-30)), KNG1 (rs710446, combined p = 9.52 x 10(-22)), and HRG (rs9898, combined p = 1.34 x 10(-11)). These three SNPs explain approximately 18% of phenotypic variance in aPTT in the Lothian Birth Cohorts.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Blood Coagulation Disorders, Inherited / genetics
  • Case-Control Studies
  • Cohort Studies
  • Factor XII / genetics*
  • Female
  • Genome-Wide Association Study*
  • Humans
  • Kininogens / genetics*
  • Male
  • Partial Thromboplastin Time
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics*
  • Proteins / genetics*
  • Thrombosis / genetics

Substances

  • Kininogens
  • Proteins
  • histidine-rich proteins
  • Factor XII