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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.
SXP 1062 is a Be X-ray binary (BeXB) located in the Small Magellanic Cloud. It hosts a long-period X-ray pulsar and is likely associated with the supernova remnant MCSNR J0127−7332. In this work we present a multiwavelength view on SXP 1062 in different luminosity regimes. We consider monitoring campaigns in optical (OGLE survey) and X-ray (Swift telescope). During these campaigns a tight coincidence of X-ray and optical outbursts is observed. We interpret this as typical Type I outbursts as often detected in BeXBs at periastron passage of the neutron star (NS). To study different X-ray luminosity regimes in depth, during the source quiescence we observed it with XMM–Newton while Chandra observations followed an X-ray outburst. Nearly simultaneously with Chandra observations in X-rays, in optical the RSS/SALT telescope obtained spectra of SXP 1062. On the basis of our multiwavelength campaign we propose a simple scenario where the disc of the Be star is observed face-on, while the orbit of the NS is inclined with respect to the disc. According to the model of quasi-spherical settling accretion our estimation of the magnetic field of the pulsar in SXP 1062 does not require an extremely strong magnetic field at the present time.