DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Activated partial thromboplastin time. The EFO term partial thromboplastin time was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: partial thromboplastin time

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

LM Houlihan, G Davies, A Tenesa, SE Harris, M Luciano, AJ Gow, KA McGhee, DC Liewald, DJ Porteous, JM Starr, GD Lowe, PM Visscher, IJ Deary

TITLE:

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

JOURNAL:

American journal of human genetics Apr 2010, Vol 86, pp. 626-31

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. PUBMED: 20303064
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