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

Lorna M. Houlihan, Gail Davies, Albert Tenesa, Sarah E. Harris, Michelle Luciano, Alan J. Gow, Kevin A. McGhee, David C. Liewald, David J. Porteous, John M. Starr, Gordon D. Lowe, Peter M. Visscher, Ian J. Deary

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    Abstract

    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.

    Original languageEnglish
    Pages (from-to)626-631
    Number of pages6
    JournalAmerican Journal of Human Genetics
    Volume86
    Issue number4
    DOIs
    Publication statusPublished - 9 Apr 2010

    Keywords

    • GENE
    • RISK-FACTORS
    • HEMOSTASIS PHENOTYPES
    • PROTEIN
    • KININOGEN
    • PLASMA
    • WHOLE-GENOME ASSOCIATION
    • POPULATION
    • DEEP-VEIN THROMBOSIS
    • FACTOR-XI DEFICIENCY

    Cite this

    Houlihan, L. M., Davies, G., Tenesa, A., Harris, S. E., Luciano, M., Gow, A. J., McGhee, K. A., Liewald, D. C., Porteous, D. J., Starr, J. M., Lowe, G. D., Visscher, P. M., & Deary, I. J. (2010). Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time. American Journal of Human Genetics, 86(4), 626-631. https://doi.org/10.1016/j.ajhg.2010.02.016