https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Genome-wide association study of kidney function decline in individuals of European descent. https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:17347 Sat 24 Mar 2018 08:01:42 AEDT ]]> Genome-wide association analyses identify 18 new loci associated with serum urate concentrations https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:28431 140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry. We further characterized these loci for associations with gout, transcript expression and the fractional excretion of urate. Network analyses implicate the inhibins-activins signaling pathways and glucose metabolism in systemic urate control. New candidate genes for serum urate concentration highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout.]]> Sat 24 Mar 2018 07:29:03 AEDT ]]> Common variants in mendelian kidney disease genes and their association with renal function https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:23785 5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research.]]> Sat 24 Mar 2018 07:16:26 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 ]]>