https://novaprd-lb.newcastle.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:20501 Sat 24 Mar 2018 07:59:03 AEDT ]]> Ischemic stroke is associated with the ABO locus: the EuroCLOT Study https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:28358 –8) with 1 or more coagulation/fibrin phenotypes. The most striking associations included SNP rs5985 with factor XIII activity (p = 2.6 x 10–186), rs10665 with FVII (p = 2.4 x 10–47), and rs505922 in the ABO gene with both von Willebrand factor (p = 4.7 x 10–57) and factor VIII (p = 1.2 x 10–36). In Stage 2, the 23 independent SNPs were examined in stroke cases/noncases using MOnica Risk, Genetics, Archiving and Monograph (MORGAM) and Wellcome Trust Case Control Consortium 2 collections. SNP rs505922 was nominally associated with ischemic stroke (odds ratio = 0.94, 95% confidence interval = 0.88–0.99, p = 0.023). Independent replication in Meta-Stroke confirmed the rs505922 association with stroke, beta (standard error, SE) = 0.066 (0.02), p = 0.001, a finding specific to large-vessel and cardioembolic stroke (p = 0.001 and p = < 0.001, respectively) but not seen with small-vessel stroke (p = 0.811). Interpretation: ABO gene variants are associated with large-vessel and cardioembolic stroke but not small-vessel disease. This work sheds light on the different pathogenic mechanisms underpinning stroke subtype. Ann Neurol 2013]]> Sat 24 Mar 2018 07:25:12 AEDT ]]> Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function https://novaprd-lb.newcastle.edu.au/vital/access/manager/Repository/uon:30005 Mon 17 Oct 2022 12:06:14 AEDT ]]>