4.7 Article

Common Variants of Large Effect in F12, KNG1, and HRG Are Associated with Activated Partial Thromboplastin Time

Journal

AMERICAN JOURNAL OF HUMAN GENETICS
Volume 86, Issue 4, Pages 626-631

Publisher

CELL PRESS
DOI: 10.1016/j.ajhg.2010.02.016

Keywords

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Funding

  1. Biotechnology and Biological Sciences Research Council (BBSRC)
  2. Biotechnology and Biological Sciences Research Council [BB/F019394/1] Funding Source: researchfish
  3. Chief Scientist Office [CZB/4/505] Funding Source: researchfish
  4. Medical Research Council [G0700704, G9900991B] Funding Source: researchfish
  5. BBSRC [BB/F019394/1] Funding Source: UKRI
  6. MRC [G0700704] Funding Source: UKRI

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Activated partial thromboplastin time (aPTF) 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 similar to 18% of phenotypic variance in aPTT in the Lothian Birth Cohorts.

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