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

Houlihan, L. M. et al. (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), pp. 626-631. (doi: 10.1016/j.ajhg.2010.02.016)

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

• Item Type: Articles
• Keywords: ASSOCIATION ASSOCIATIONS BLOOD COAGULATION Cohort DEEP-VEIN THROMBOSIS DISORDER FACTOR-XI DEFICIENCY GENE genes genetics GENOME-WIDE ASSOCIATION genome-wide association study haemostasis HEMOSTASIS PHENOTYPES KININOGEN NUCLEIC-ACIDS PLASMA POPULATION PROTEIN RISK RISK-FACTORS Scotland stroke TECHNOLOGIES THROMBOSIS WHOLE-GENOME ASSOCIATION
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Lowe, Professor Gordon
• Authors: 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., and Deary, I. J.
• College/School: College of Medical Veterinary and Life Sciences
• Journal Name: American Journal of Human Genetics
• ISSN: 0002-9297