https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Genetic epidemiology studies in hereditary non-polyposis colorectal cancer https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:8477 Sat 24 Mar 2018 08:41:59 AEDT ]]> Polygenic overlap between kidney function and large artery atherosclerotic stroke https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:19418 Sat 24 Mar 2018 07:51:57 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 ]]> Genome-wide Association Meta-analysis of Childhood and Adolescent Internalizing Symptoms https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:50952 overall) detected no genome-wide significant hits and showed low single nucleotide polymorphism (SNP) heritability (1.66%, 95% CI = 0.84-2.48%, neffective = 132,260). Stratified analyses indicated rater-based heterogeneity in genetic effects, with self-reported internalizing symptoms showing the highest heritability (5.63%, 95% CI = 3.08%-8.18%). The contribution of additive genetic effects on internalizing symptoms appeared to be stable over age, with overlapping estimates of SNP heritability from early childhood to adolescence. Genetic correlations were observed with adult anxiety, depression, and the well-being spectrum (|rg| > 0.70), as well as with insomnia, loneliness, attention-deficit/hyperactivity disorder, autism, and childhood aggression (range |rg| = 0.42-0.60), whereas there were no robust associations with schizophrenia, bipolar disorder, obsessive-compulsive disorder, or anorexia nervosa. Conclusion: Genetic correlations indicate that childhood and adolescent internalizing symptoms share substantial genetic vulnerabilities with adult internalizing disorders and other childhood psychiatric traits, which could partially explain both the persistence of internalizing symptoms over time and the high comorbidity among childhood psychiatric traits. Reducing phenotypic heterogeneity in childhood samples will be key in paving the way to future GWAS success.]]> Mon 14 Aug 2023 14:36:09 AEST ]]> Aldose Reductase Polymorphisms, Fasting Blood Glucose, and Age-Related Cortical Cataract https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:43046 6.0 mM (strata-specific OR 1.72, 95% CI 1.09–2.72). No similar association was found in participants with normal FBG (OR 0.85, 95% CI 0.69–1.04). This interaction was not evident in the SEED study. Conclusions: The identified interaction between rs9640883 and FBG in relation to cortical cataract was not replicated but may warrant further investigation.]]> Mon 12 Sep 2022 12:59:35 AEST ]]>