https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 Genome-wide analysis identifies 12 loci influencing human reproductive behavior https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:29536 Wed 11 Apr 2018 15:45:41 AEST ]]> Genome-wide association and functional follow-up reveals new loci for kidney function https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:15141 Wed 11 Apr 2018 13:54:12 AEST ]]> Comparison of HapMap and 1000 genomes reference panels in a large-scale genome-wide association study https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30590 Wed 11 Apr 2018 10:46:14 AEST ]]> Genome-wide association study of kidney function decline in individuals of European descent. https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:17347 Sat 24 Mar 2018 08:01:42 AEDT ]]> Shared genetic basis for migraine and ischemic stroke: a genome-wide analysis of common variants https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:25600 -28 for the LAS polygenic score in MO) and between MO and cardioembolic stroke (CE; p 2.7 x 10-20 for the CE score in MO). Conclusions: Our findings indicate shared genetic susceptibility to migraine and IS, with a particularly strong overlap between MO and both LAS and CE pointing towards shared mechanisms. Our observations on MA are consistent with a limited role of common genetic variants in this subtype.]]> Sat 24 Mar 2018 07:28:03 AEDT ]]> Common variants in mendelian kidney disease genes and their association with renal function https://nova.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 ]]> Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:22322 FBXL20 (P = 5.6 × 10−9) in meta-analysis of all available data, and additional SNPs at the INHBC, LRP2, PLEKHA1, SLC3A2 and SLC7A6 genes meeting multiple-testing corrected significance for replication and overall P-values of 4.5 × 10−4–2.2 × 10−7. Neither the novel PLEKHA1 nor FBXL20 associations, both further supported by association with eGFR among African Americans and with transcript abundance, would have been implicated by eGFR candidate gene approaches. LRP2, encoding the megalin receptor, was identified through connection with the previously known eGFR gene DAB2 and extends understanding of the megalin system in kidney function. These findings highlight integration of existing genome-wide association data with independent biological knowledge to uncover novel candidate eGFR associations, including candidates lacking known connections to kidney-specific pathways. The strategy may also be applicable to other clinical phenotypes, although more testing will be needed to assess its potential for discovery in general.]]> Sat 24 Mar 2018 07:14:43 AEDT ]]> Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:30005 Mon 17 Oct 2022 12:06:14 AEDT ]]>