Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

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, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways

A importância da ordem Ciconiiformes na cadeia epidemiológica de Salmonella spp. para a saúde pública e a conservação da diversidade biológica The role of order Ciconiiformes in the epidemiological chain of Salmonella spp. for public health and biological diversity conservation

A diversidade biológica é representada por todas as unidades da natureza e sua conservação diz respeito à sobrevivência da própria espécie humana. Uma das ameaças à sua conservação são as doenças infecciosas que afetam a fauna, dentre as quais se podee incluir a salmonelose como uma das mais importantes, especialmente para a avifauna. Aves de topo de cadeia alimentar como os Ciconiiformes podem ser potenciais reservatórios e disseminadores da Salmonella spp. para outras espécies silvestres e também para populações humanas e animais domésticos, podendo causar prejuízos à saúde pública e ao meio ambiente. Objetivou-se descrever a infecção ou doença por Salmonella sp., o seu agente etiológico e sua ocorrência em Ciconiiformes, bem como demonstrar a importância destas aves na cadeia epidemiológica silvestre desta zoonose, verificando os riscos para a saúde pública e para a conservação da diversidade biológica.<br>Biological diversity is represented by all nature units and its conservation is about the survival of human beings. Infectious diseases are one of the possible threats for wildlife conservation, which includes salmonellosis as a most important disease, especially for the avifauna. Top alimentary chain birds such as Ciconiiformes can be reservoirs and disseminators of Salmonella spp. to other wild and domestic animals, and also for human populations, with serious risks to public and environmental health. This review describes infection by Salmonella spp., its etiological agent and occurrence in Ciconiiformes, as well as the importance of these wild birds for the epidemiological chain of the zoonosis, and discusses the risks for public health and biological diversity conservation