https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Genome-wide association study of retinopathy in individuals without diabetes https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15067 Wed 11 Apr 2018 16:52:00 AEST ]]> Genetic loci for retinal arteriolar microcirculation https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15066 Wed 11 Apr 2018 14:58:51 AEST ]]> Genome-wide association and functional follow-up reveals new loci for kidney function https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15141 Wed 11 Apr 2018 13:54:12 AEST ]]> Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15068 Wed 11 Apr 2018 13:50:10 AEST ]]> 1000 genomes-based meta-analysis identifies 10 novel loci for kidney function https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:30822 50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney function based on the estimated glomerular filtration rate (eGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 × 10−8 previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, which were missed by our previous analyses. Among those, the 10 identified novel genes are part of pathways of kidney development, carbohydrate metabolism, cardiac septum development and glucose metabolism. These results highlight the utility of re-imputing from denser reference panels, until whole-genome sequencing becomes feasible in large samples.]]> Tue 04 Apr 2023 19:09:51 AEST ]]> Common variants at 6p21.1 are associated with large artery atherosclerotic stroke https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13951 Sat 24 Mar 2018 10:41:26 AEDT ]]> Genetic overlap between diagnostic subtypes of ischemic stroke https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:27245 g=0.96, SE=0.47, P=9x10−4) and profile scores (rg=0.72; 95% confidence interval, 0.52–0.93). Between LAA and cardioembolism and SVD and cardioembolism, correlation was moderate using linear mixed models but not significantly different from zero for profile scoring. Joint meta-analysis of LAA and SVD identified strong association (P=1x10−7) for single nucleotide polymorphisms near the opioid receptor μ1 (OPRM1) gene. Conclusions: Our results suggest that LAA and SVD, which have been hitherto treated as genetically distinct, may share a substantial genetic component. Combined analyses of LAA and SVD may increase power to identify small-effect alleles influencing shared pathophysiological processes.]]> Sat 24 Mar 2018 07:29:11 AEDT ]]> Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:30005 Mon 17 Oct 2022 12:06:14 AEDT ]]> Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:47296 Fri 13 Jan 2023 10:45:52 AEDT ]]>