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

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

Research output: Contribution to journalArticlepeer-review

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 - Apr 2010

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