https://nova.newcastle.edu.au/vital/access/ /manager/Index en-au 5 Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:45560 Wed 28 Feb 2024 15:21:35 AEDT ]]> Comparison of HapMap and 1000 genomes reference panels in a large-scale genome-wide association study https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30590 Wed 11 Apr 2018 10:46:14 AEST ]]> Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:20566 Wed 11 Apr 2018 10:41:17 AEST ]]> Genome-wide association analysis identifies six new loci associated with forced vital capacity https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:21233 P < 5 × 10−8) with FVC in or near EFEMP1, BMP6, MIR129-2–HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.]]> Sat 24 Mar 2018 07:53:01 AEDT ]]> Ischemic stroke is associated with the ABO locus: the EuroCLOT Study https://nova.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 ]]> Changes in Refractive Error During Young Adulthood: The Effects of Longitudinal Screen Time, Ocular Sun Exposure, and Genetic Predisposition https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:55053 Fri 05 Apr 2024 09:56:04 AEDT ]]>