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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.
Examining the dissemination of evidence on social media, we analyzed the discourse around eight visible scientists in the context of COVID-19. Using manual (N = 1,406) and automated coding (N = 42,640) on an account-based tracked Twitter/X dataset capturing scientists’ activities and eliciting reactions over six 2-week periods, we found that visible scientists’ tweets included more scientific evidence. However, public reactions contained more anecdotal evidence. Findings indicate that evidence can be a message characteristic leading to greater tweet dissemination. Implications for scientists, including explicitly incorporating scientific evidence in their communication and examining evidence in science communication research, are discussed.