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 Bibliografske baze podataka

Pregled bibliografske jedinice broj: 990349

Časopis

Autori: Pattaro, Cristian; ICBP Consortium; Teumer, Alexander; Gorski, Mathias; Chu, Audrey Y.; Kolcic, Ivana; Rudan, Igor; Boban, Mladen; Polasek, Ozren; Zemunik, Tatijana; Lehtimäki, Terho; Illig, Thomas; Aspelund, Thor; Nikopensius, Tiit; Esko, Tonu; Tanaka, Toshiko; Gyllensten, Ulf; Völker, Uwe; Emilsson, Valur; Vitart, Veronique; Aalto, Ville; Gudnason, Vilmundur; Köttgen, Anna; Kao, W. H. Linda; Fox, Caroline S.; AGEN Consortium; CARDIOGRAM; CHARGe-Heart Failure Group; ECHOGen Consortium et al.
Naslov: Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
( Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function )
Izvornik: Nature Communications (2041-1723) 7 (2016);
Vrsta rada: članak
Ključne riječi: GENOME-WIDE ASSOCIATION ; FALSE DISCOVERY RATES ; STAGE RENAL-DISEASE ; SERUM CREATININE ; METAANALYSIS ; VARIANTS ; INDIVIDUALS ; POPULATION ; RISK ; HYPERTENSION
( GENOME-WIDE ASSOCIATION ; FALSE DISCOVERY RATES ; STAGE RENAL-DISEASE ; SERUM CREATININE ; METAANALYSIS ; VARIANTS ; INDIVIDUALS ; POPULATION ; RISK ; HYPERTENSION )
Sažetak:
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.
Izvorni jezik: eng
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti
Broj citata:
Altmetric:
DOI: 10.1038/ncomms10023
URL cjelovitog teksta:
Časopis izlazi u samo elektroničkom izdanju: NE
Google Scholar: Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
Upisao u CROSBI: Ivana Gunjača (ivana.gunjaca@mefst.hr), 18. Ožu. 2019. u 11:08 sati



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