http://researchonline.federation.edu.au/vital/access/manager/Index ${session.getAttribute("locale")} 5 Cohort profile : the Australian genetics of depression study http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:14577 Wed 07 Apr 2021 14:02:40 AEST ]]> Associations between polygenic risk for tobacco and alcohol use and liability to tobacco and alcohol use, and psychiatric disorders in an independent sample of 13,999 Australian adults http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:14265 Wed 07 Apr 2021 14:02:21 AEST ]]> B-type lamins in health and disease http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:14210 Wed 07 Apr 2021 14:02:17 AEST ]]> Lamin A/C-dependent interaction with 53BP1 promotes cellular responses to DNA damage http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:14209 Wed 07 Apr 2021 14:02:17 AEST ]]> Xenopus LAP2β protein knockdown affects location of lamin B and nucleoporins and has effect on assembly of cell nucleus and cell viability http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:14207 Wed 07 Apr 2021 14:02:17 AEST ]]> Health challenges of the pacific region : Insights from history, geography, social determinants, genetics, and the microbiome http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:14155 Wed 07 Apr 2021 14:02:14 AEST ]]> Uncovering genetic mechanisms of kidney aging through transcriptomics, genomics, and epigenomics http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:13808 Wed 07 Apr 2021 14:01:55 AEST ]]> In-silico analysis and expression profiling implicate diverse role of EPSPS family genes in regulating developmental and metabolic processes http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:13730 Wed 07 Apr 2021 14:01:50 AEST ]]> Genetics of blood pressure : Time to curate the collection http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:11640 Wed 07 Apr 2021 13:56:56 AEST ]]> Isolated remnant or recent introduction? Estimating the provenance of Yellingbo Leadbeater's possums by genetic analysis and bottleneck simulation http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:10862 Wed 07 Apr 2021 13:56:13 AEST ]]> An NZW-derived interval on chromosome 7 moderates sialadenitis, but not insulitis in congenic nonobese diabetic mice http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:10851 Wed 07 Apr 2021 13:56:13 AEST ]]> Population genetic analysis reveals a long-term decline of a threatened endemic Australian marsupial http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:10714 Wed 07 Apr 2021 13:56:04 AEST ]]> Control of the sheep blowfly in Australia and New Zealand - are we there yet? http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:7555 Wed 07 Apr 2021 13:47:00 AEST ]]> Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:5239 Wed 07 Apr 2021 13:44:53 AEST ]]> The epithelial sodium channel y-subunit gene and blood pressure : Family based association, renal gene expression, and physiological analyses http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:4524 Wed 07 Apr 2021 13:43:59 AEST ]]> Genetic architecture of ambulatory blood pressure in the general population insights from cardiovascular gene-centric array http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:3910 2000 cardiovascular candidate loci. We found a strong association between rs13306560 polymorphism in the promoter region of MTHFR and CLCN6 and mean 24-hour diastolic blood pressure; each minor allele copy of rs13306560 was associated with 2.6 mm Hg lower mean 24-hour diastolic blood pressure (P=1.2 x 10(-8)). rs13306560 was also associated with clinic diastolic blood pressure in a combined analysis of 8129 subjects from the Genetic Regulation of Arterial Pressure of Humans in the Community Study, the CoLaus Study, and the Silesian Cardiovascular Study (P=5.4 x 10(-6)). Additional analysis of associations between variants in gene ontology-defined pathways and mean 24-hour blood pressure in the Genetic Regulation of Arterial Pressure of Humans in the Community Study showed that cell survival control signaling cascades could play a role in blood pressure regulation. There was also a significant overrepresentation of rare variants (minor allele frequency: <0.05) among polymorphisms showing at least nominal association with mean 24-hour blood pressure indicating that a considerable proportion of its heritability may be explained by uncommon alleles. Through a large-scale gene-centric analysis of ambulatory blood pressure, we identified an association of a novel variant at the MTHFR/CLNC6 locus with diastolic blood pressure and provided new insights into the genetic architecture of blood pressure.]]> Wed 07 Apr 2021 13:34:57 AEST ]]> Fibroblast growth factor binding protein 1 gene (FGFBP1) and hypertension d from pathway analysis to renal glomerulus http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:3688 Wed 07 Apr 2021 13:34:42 AEST ]]> Whole genome survey of copy number variation in the spontaneously hypertensive rat relationship to quantitative trait loci, gene expression, and blood pressure http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:2909 Wed 07 Apr 2021 13:33:56 AEST ]]> Genetics of human essential hypertension - from single mutations to quantitative trait loci http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:2883 Wed 07 Apr 2021 13:33:54 AEST ]]> A common variant in low-density lipoprotein receptor-related protein 6 gene (LRP6) is associated with LDL-Cholesterol http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:2136 = 0.1) single nucleotide polymorphisms in LRP6 were genotyped in 703 individuals from 213 Polish pedigrees (Silesian Cardiovascular Study families). The family-based analysis revealed that the minor allele of rs10845493 clustered with elevated LDL-C in offspring more frequently than expected by chance (P=0.0053). The quantitative analysis restricted to subjects free of lipid-lowering treatment confirmed the association between rs10845493 and age-, sex-, and BMI-adjusted circulating levels of LDL-C in families as well as 2 additional populations - 218 unrelated subjects from Silesian Cardiovascular Study replication panel and 1138 individuals from Young Men Cardiovascular Association cohort (P=0.0268, P=0.0476, and P=0.0472, respectively). In the inverse variance weighted meta-analysis of the 3 populations each extra minor allele copy of rs10845493 was associated with 0.14 mmol/L increase in age-, sex-, and BMI-adjusted LDL-C (SE=0.05, P=0.0038). Conclusions-Common polymorphism in the gene underlying monogenic form of coronary artery disease impacts on risk of LDL-C elevation. (Arterioscler Thromb Vasc Biol. 2009;29:1316-1321.)]]> Wed 07 Apr 2021 13:33:12 AEST ]]> Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:14938 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency ≤ 0.01) variant BP associations (P < 5 × 10−8), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44% coding) were ~8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc. There are 286 authors of this articles not all are listed in this record.]]> Thu 25 Nov 2021 11:48:02 AEDT ]]> A DNA toolbox for non-invasive genetic studies of sambar deer (Rusa unicolor) http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:14325 Thu 25 Nov 2021 11:15:30 AEDT ]]> Kidney omics in hypertension: from statistical associations to biological mechanisms and clinical applications http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:17466 1000 common and rare genetic variants associated with BP and/or hypertension. The kidney is not only an organ of key relevance to BP regulation and the development of hypertension, but it also acts as the tissue mediator of genetic predisposition to hypertension. The identity of kidney genes, pathways, and related mechanisms underlying the genetic associations with BP has started to emerge through integration of genomics with kidney transcriptomics, epigenomics, and other omics as well as through applications of causal inference, such as Mendelian randomization. Single-cell methods further enabled mapping of BP-associated kidney genes to cell types, and in conjunction with other omics, started to illuminate the biological mechanisms underpinning associations of BP-associated genetic variants and kidney genes. Polygenic risk scores derived from genome-wide association studies and refined on kidney omics hold the promise of enhanced diagnostic prediction, whereas kidney omics-informed drug discovery is likely to contribute new therapeutic opportunities for hypertension and hypertension-mediated kidney damage. © 2022 International Society of Nephrology]]> Thu 23 Mar 2023 11:55:08 AEDT ]]> The association of circular RNAs with hypertension http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:17394 Mon 06 Mar 2023 11:56:12 AEDT ]]> DMD-associated dilated cardiomyopathy : genotypes, phenotypes, and phenocopies http://researchonline.federation.edu.au/vital/access/manager/Repository/vital:19065 90, indicating high levels of constitutive expression in the human adult heart. Fifteen DMD variant-negative probands (15/40: 37.5%) had variants in autosomal genes including TTN, BAG3, LMNA, and RBM20. Myocardial telomere length was reduced in patients with DCM irrespective of genotype. No differences in blood telomere length were observed between genotype-positive family members with/without DCM and controls. Conclusions: Primary genetic testing using multi-gene panels has a low yield and specific assays for structural variants are required if DMD-associated cardiomyopathy is suspected. Distinguishing X-linked causes of DCM from autosomal genes that show sex differences in clinical presentation is crucial for informed family management. © 2023 American Heart Association, Inc.]]> Mon 04 Mar 2024 12:25:11 AEDT ]]>