rs1149616 - TSKU

Magnitude 2.2 · 2 studies on file

Reported associations

• A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology. - Blood (2019) · de Vries PS, Sabater-Lleal M, Huffman JE, Marten J, Song C, Pankratz N, Bartz TM, de Haan HG, Delgado GE, Eicher JD, Martinez-Perez A, Ward-Caviness CK, Brody JA, Chen MH, de Maat MPM, Frånberg M, Gill D, Kleber ME, Rivadeneira F, Soria JM, Tang W, Tofler GH, Uitterlinden AG, van Hylckama Vlieg A, Seshadri S, Boerwinkle E, Davies NM, Giese AK, Ikram MK, Kittner SJ, McKnight B, Psaty BM, Reiner AP, Sargurupremraj M, Taylor KD, Fornage M, Hamsten A, März W, Rosendaal FR, Souto JC, Dehghan A, Johnson AD, Morrison AC, O'Donnell CJ, Smith NL · PubMed 30642921

  Factor VII (FVII) is an important component of the coagulation cascade. Few genetic loci regulating FVII activity and/or levels have been discovered to date. We conducted a meta-analysis of 9 genome-wide association studies of plasma FVII levels (7 FVII activity and 2 FVII antigen) among 27 495 participants of European and African ancestry. Each study performed ancestry-specific association analyses. Inverse variance weighted meta-analysis was performed within each ancestry group and then combined for a -ancestry meta-analysis. Our primary analysis included the 7 studies that measured FVII activity, and a secondary analysis included all 9 studies. We provided functional genomic validation for newly identified significant loci by silencing candidate genes in a human liver cell line (HuH7)

• Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations - Unknown journal (n.d.) · Unknown authors · PubMed 35285134

  ABSTRACT: Abstract Background Multi‐phenotype analysis of genetically correlated phenotypes can increase the statistical power to detect loci associated with multiple traits, leading to the discovery of novel loci. This is the first study to date to comprehensively analyze the shared genetic effects within different hemostatic traits, and between these and their associated disease outcomes. Objectives To discover novel genetic associations by combining summary data of correlated hemostatic traits and disease events. Methods Summary statistics from genome wide‐association studies (GWAS) from seven hemostatic traits (factor VII [FVII], factor VIII [FVIII], von Willebrand factor [VWF] factor XI [FXI], fibrinogen, tissue plasminogen activator [tPA], plasminogen activator inhibitor 1 [PAI

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