Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 20303064.
- Also identified by DOI 10.1016/j.ajhg.2010.02.016 and PMC identifier 2850435.
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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.
Medical subject headings
- Factor XII
- Genome-Wide Association Study
- Kininogens
- Polymorphism, Single Nucleotide
- Proteins