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

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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., 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. 626-31.

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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.

Item Type:Article
ISSN:1537-6605
Subjects:Technology > Medicine and Health
Group:School of Health and Social Care
ID Code:14291
Deposited By:Dr Kevin McGhee
Deposited On:05 May 2010 21:29
Last Modified:07 Mar 2013 15:27
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