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

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• 作者：Lorna M. Houlihan ; Gail Davies ; Albert Tenesa ; Sarah E. Harris ; Michelle Luciano ; Alan J. Gow ; Kevin A. McGhee ; David C. Liewald ; David J. Porteous ; John M. Starr ; Gordon D. Lowe ; Peter M. Visscher ; I
• 刊名：The American Journal of Human Genetics
• 出版年：2010
• 出版时间：9 April 2010
• 年：2010
• 卷：86
• 期：4
• 页码：626-631
• 全文大小：363 K

文摘

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 × 10⁻³⁰), KNG1 (rs710446, combined p = 9.52 × 10⁻²²), and HRG (rs9898, combined p = 1.34 × 10⁻¹¹). These three SNPs explain 18 % of phenotypic variance in aPTT in the Lothian Birth Cohorts.