rs117976868 - PRTG - NEDD4

Magnitude 2.2 · 1 study 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)

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.