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Göteborgs universitets publikationer

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

Författare och institution:
Cristian Pattaro (-); Alexander Teumer (-); Mathias Gorski (-); Audrey Y. Chu (-); Man Li (-); Vladan Mijatovic (-); Maija Garnaas (-); Adrienne Tin (-); Rossella Sorice (-); Yong Li (-); Santosh Dahgam (Institutionen för medicin, avdelningen för samhällsmedicin och folkhälsa, enheten för arbets-och miljömedicin); Fredrik Nyberg (Institutionen för medicin, avdelningen för samhällsmedicin och folkhälsa, enheten för arbets-och miljömedicin); Annika Rosengren (Institutionen för medicin, avdelningen för molekylär och klinisk medicin); Caroline Fox (-)
Publicerad i:
Nature Communications, 7 ( 10023 )
ISSN:
2041-1723
Publikationstyp:
Artikel, refereegranskad vetenskaplig
Publiceringsår:
2016
Språk:
engelska
Fulltextlänk:
Sammanfattning (abstract):
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.
Ämne (baseras på Högskoleverkets indelning av forskningsämnen):
MEDICIN OCH HÄLSOVETENSKAP ->
Medicinska grundvetenskaper ->
Medicinsk genetik
Postens nummer:
240722
Posten skapad:
2016-08-24 14:22

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