rs10848820 - TSPAN9

Magnitude 2.0 · 1 study on file

Reported associations

• Genome-wide association studies identify genetic loci for low von Willebrand factor levels. - European journal of human genetics : EJHG (2017) · van Loon J, Dehghan A, Weihong T, Trompet S, McArdle WL, Asselbergs FW, Chen MH, Lopez LM, Huffman JE, Leebeek FW, Basu S, Stott DJ, Rumley A, Gansevoort RT, Davies G, Wilson JJ, Witteman JC, Cao X, de Craen AJ, Bakker SJ, Psaty BM, Starr JM, Hofman A, Wouter Jukema J, Deary IJ, Hayward C, van der Harst P, Lowe GD, Folsom AR, Strachan DP, Smith N, de Maat MP, O'Donnell C · PubMed 26486471

  Low von Willebrand factor (VWF) levels are associated with bleeding symptoms and are a diagnostic criterion for von Willebrand disease, the most common inherited bleeding disorder. To date, it is unclear which genetic loci are associated with reduced VWF levels. Therefore, we conducted a meta-analysis of genome-wide association studies to identify genetic loci associated with low VWF levels. For this meta-analysis, we included 31 149 participants of European ancestry from 11 community-based studies. From all participants, VWF antigen (VWF:Ag) measurements and genome-wide single-nucleotide polymorphism (SNP) scans were available. Each study conducted analyses using logistic regression of SNPs on dichotomized VWF:Ag measures (lowest 5% for blood group O and non-O) with an additive genetic

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