https://ogma.newcastle.edu.au/vital/access/ /manager/Index en-au 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15066 Wed 11 Apr 2018 14:58:51 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15141 Wed 11 Apr 2018 13:54:12 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:15068 Wed 11 Apr 2018 13:50:10 AEST ]]> 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 ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:17347 Sat 24 Mar 2018 08:01:42 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20501 Sat 24 Mar 2018 07:59:03 AEDT ]]> https://ogma.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 ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:25518 Sat 24 Mar 2018 07:26:01 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:30005 Mon 17 Oct 2022 12:06:14 AEDT ]]>