MURAL - Maynooth University Research Archive Library

    Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease

    Tang, Weihong and Schwienbacher, Christine and Lopez, Lorna M. and Ben-Shlomo, Yoav and Oudot-Mellakh, Tiphaine and Johnson, Andrew D. and Samani, Nilesh J. and Basu, Saonli and Gögele, Martin and Davies, Gail and Lowe, Gordon D.O. and Tregouet, David-Alexandre and Tan, Adrian and Pankow, James S. and Tenesa, Albert and Levy, Daniel and Volpato, Claudia B. and Rumley, Ann and Gow, Alan J. and Minelli, Cosetta and Yarnell, John W.G. and Porteous, David J. and Starr, John M. and Gallacher, John and Boerwinkle, Eric and Visscher, Peter M. and Pramstaller, Peter P. and Cushman, Mary and Emilsson, Valur and Plump, Andrew S. and Matijevic, Nena and Morange, Pierre-Emmanuel and Deary, Ian J. and Hicks, Andrew A. and Folsom, Aaron R. (2012) Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease. The American Journal of Human Genetics, 91 (1). pp. 152-162. ISSN 00029297

    Download (376kB) | Preview

    Share your research

    Twitter Facebook LinkedIn GooglePlus Email more...

    Add this article to your Mendeley library


    Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT, but no GWAS has been reported for PT. We conducted a GWAS and meta-analysis to identify genetic loci for aPTT and PT. The GWAS for aPTT was conducted in 9,240 individuals of European ancestry from the Atherosclerosis Risk in Communities (ARIC) study, and the GWAS for PT was conducted in 2,583 participants from the Genetic Study of Three Population Microisolates in South Tyrol (MICROS) and the Lothian Birth Cohorts (LBC) of 1921 and 1936. Replication was assessed in 1,041 to 3,467 individuals. For aPTT, previously reported associations with KNG1, HRG, F11, F12, and ABO were confirmed. A second independent association in ABO was identified and replicated (rs8176704, p = 4.26 × 10−24). Pooling the ARIC and replication data yielded two additional loci in F5 (rs6028, p = 3.22 × 10−9) and AGBL1 (rs2469184, p = 3.61 × 10−8). For PT, significant associations were identified and confirmed in F7 (rs561241, p = 3.71 × 10−56) and PROCR/EDEM2 (rs2295888, p = 5.25 × 10−13). Assessment of existing gene expression and coronary artery disease (CAD) databases identified associations of five of the GWAS loci with altered gene expression and two with CAD. In summary, eight genetic loci that account for ∼29% of the variance in aPTT and two loci that account for ∼14% of the variance in PT were detected and supported by functional data.

    Item Type: Article
    Keywords: Genetic Associations; Activated; Partial; Thromboplastin Time; Prothrombin Time; Gene Expression Profiles; Risk; Coronary Artery Disease;
    Academic Unit: Faculty of Science and Engineering > Biology
    Faculty of Science and Engineering > Research Institutes > Human Health Institute
    Item ID: 17317
    Identification Number:
    Depositing User: Lorna Lopez
    Date Deposited: 14 Jun 2023 11:46
    Journal or Publication Title: The American Journal of Human Genetics
    Publisher: Cell Press
    Refereed: Yes
    Use Licence: This item is available under a Creative Commons Attribution Non Commercial Share Alike Licence (CC BY-NC-SA). Details of this licence are available here

    Repository Staff Only(login required)

    View Item Item control page


    Downloads per month over past year

    Origin of downloads