2016
DOI: 10.1038/ncomms10023
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Abstract: Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, nineteen associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identifi… Show more

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Cited by 422 publications
(424 citation statements)
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References 48 publications
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“…This observation is in contrast to Apobec1 knockout mice, which display decreased HDL (Nakamuta et al 1996). A1CF has been reported by multiple groups to be highly expressed in the kidney (Lellek et al 2000;Dur et al 2004) and has been genetically (Pattaro et al 2016) and molecularly (Huang et al 2016) associated with kidney function. Given this, we evaluated whether our A1CF-null model displayed any kidney-related defects.…”
Section: A1cf Has Novel Physiological Rolescontrasting
confidence: 44%
“…This observation is in contrast to Apobec1 knockout mice, which display decreased HDL (Nakamuta et al 1996). A1CF has been reported by multiple groups to be highly expressed in the kidney (Lellek et al 2000;Dur et al 2004) and has been genetically (Pattaro et al 2016) and molecularly (Huang et al 2016) associated with kidney function. Given this, we evaluated whether our A1CF-null model displayed any kidney-related defects.…”
Section: A1cf Has Novel Physiological Rolescontrasting
confidence: 44%
“…Data from other complex-trait studies indicate that disease-causing genetic variants are localized to regulatory regions in disease-relevant cell types, altering transcription factor binding and downstream quantitative expression of target genes. 12 This has also been shown for the CKDassociated locus at chromosome 16. Risk variants at this locus are associated with higher UMOD (MIM: 191845) transcript levels.…”
Section: Introductionmentioning
confidence: 67%
“…We manually curated a list of SNPs that both passed genome-wide significance and were associated with kidney disease traits (Table S7). [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25] To acquire independent loci, we removed any SNPs having r 2 R 0.2. In total, we analyzed 110 leading SNPs and 2,357 tagging SNPs with r 2 R 0.8 (Table S7).…”
Section: Kidney Eqtl Highlights the Genetics Of Disease Traitsmentioning
confidence: 99%
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“…S1P produced by SphK2 in the nucleus is an endogenous inhibitor of specific histone deacetylases, linking sphingolipid metabolism to epigenetic regulation of genes in the brain and liver. [26][27][28][29] SphK2 in mitochondria produces S1P that interacts with prohibitin 2 to regulate complex IV assembly and respiration. 30 Furthermore, S1P produced by SphK1 can function as a cofactor for the E3 ubiquitin ligase activity of TRAF2 in nuclear factor-κB (NF-κB) signaling.…”
Section: S1p a Pleiotropic Lipid Mediatormentioning
confidence: 99%