GeneSet Information

Tier I GS270745 • GWAS Catalog Data for partial thromboplastin time in 2,583 European ancestry individuals


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 ( The disease/trait examined in this study, as reported by the authors, was Prothrombin 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.


GWAS: partial thromboplastin time









W Tang, C Schwienbacher, LM Lopez, Y Ben-Shlomo, T Oudot-Mellakh, AD Johnson, NJ Samani, S Basu, M Gögele, G Davies, GD Lowe, DA Tregouet, A Tan, JS Pankow, A Tenesa, D Levy, CB Volpato, A Rumley, AJ Gow, C Minelli, JW Yarnell, DJ Porteous, JM Starr, J Gallacher, E Boerwinkle, PM Visscher, PP Pramstaller, M Cushman, V Emilsson, AS Plump, N Matijevic, PE Morange, IJ Deary, AA Hicks, AR Folsom


Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.


American journal of human genetics Jul 2012, Vol 91, pp. 152-62


Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT, but no GWAS has been reported for PT. We conducted a GWAS and meta-analysis to identify genetic loci for aPTT and PT. The GWAS for aPTT was conducted in 9,240 individuals of European ancestry from the Atherosclerosis Risk in Communities (ARIC) study, and the GWAS for PT was conducted in 2,583 participants from the Genetic Study of Three Population Microisolates in South Tyrol (MICROS) and the Lothian Birth Cohorts (LBC) of 1921 and 1936. Replication was assessed in 1,041 to 3,467 individuals. For aPTT, previously reported associations with KNG1, HRG, F11, F12, and ABO were confirmed. A second independent association in ABO was identified and replicated (rs8176704, p = 4.26 × 10(-24)). Pooling the ARIC and replication data yielded two additional loci in F5 (rs6028, p = 3.22 × 10(-9)) and AGBL1 (rs2469184, p = 3.61 × 10(-8)). For PT, significant associations were identified and confirmed in F7 (rs561241, p = 3.71 × 10(-56)) and PROCR/EDEM2 (rs2295888, p = 5.25 × 10(-13)). Assessment of existing gene expression and coronary artery disease (CAD) databases identified associations of five of the GWAS loci with altered gene expression and two with CAD. In summary, eight genetic loci that account for ∼29% of the variance in aPTT and two loci that account for ∼14% of the variance in PT were detected and supported by functional data. PUBMED: 22703881
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Annotation Information

partial thromboplastin time (EFO:0004310)

Gene List • 35 Genes

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