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    Am J Hum Genet. 2010 Apr 9;86(4):626-31. Epub 2010 Mar 18.

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

    Houlihan LM, Davies G, Tenesa A, Harris SE, Luciano M, Gow AJ, McGhee KA, Liewald DC, Porteous DJ, Starr JM, Lowe GD, Visscher PM, Deary IJ.

    Source

    Centre for Cognitive Ageing and Cognitive Epidemiology, Department of Psychology, The University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK. lorna.houlihan@ed.ac.uk

    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.

    (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

    PMID:
    20303064
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2850435
    Free PMC Article

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