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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.
Sociocultural valuation (SCV) of ecosystem services (ES) discloses the principles, importance or preferences expressed by people towards nature. Although ES research has increasingly addressed sociocultural values in past years, little effort has been made to systematically review the components of sociocultural valuation applications for different decision contexts (i.e. awareness raising, accounting, priority setting, litigation and instrument design). In this analysis, we investigate the characteristics of 48 different sociocultural valuation applications—characterised by unique combinations of decision context, methods, data collection formats and participants—across ten European case studies. Our findings show that raising awareness for the sociocultural value of ES by capturing people’s perspective and establishing the status quo, was found the most frequent decision context in case studies, followed by priority setting and instrument development. Accounting and litigation issues were not addressed in any of the applications. We reveal that applications for particular decision contexts are methodologically similar, and that decision contexts determine the choice of methods, data collection formats and participants involved. Therefore, we conclude that understanding the decision context is a critical first step to designing and carrying out fit-for-purpose sociocultural valuation of ES in operational ecosystem management.