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A catalog of genetic loci associated with kidney function from analyses of a million individuals
(2019)
Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
Ultra thin organic layers of benzene-type molecules are able to passivate Si surfaces. The organic layers were electrochemically deposited on Si surfaces from aqueous solution of diazonium compounds and show a blocking of the charge transfer from Si into the electrolyte after the deposition process. Electron microscopic images reveal a compact and homogeneous organic layer of 4-bromobenzene on the Si. The surface recombination increases only slightly with respect to a well H-passivated Si surface, so that the interface state density is about 10(11) cm(2) or slightly below. Organic layer modified Si surfaces are much longer stable in ambient air than the H-terminated surface as observed by a slower decay of the integrated photoluminescence intensity with time. Thermal desorption measurements show that the organic layer is stable up to about 200 degrees C.