/manager/Index ${session.getAttribute("locale")} 5 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function /manager/Repository/uon:30005 Wed 11 Apr 2018 12:53:27 AEST ]]> Genome-wide association study of kidney function decline in individuals of European descent. /manager/Repository/uon:17347 Sat 24 Mar 2018 08:01:42 AEDT ]]> Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function /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 ]]>