DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Chronic kidney disease. The EFO term chronic kidney disease was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: chronic kidney disease

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

C Pattaro, A Teumer, M Gorski, AY Chu, M Li, V Mijatovic, M Garnaas, A Tin, R Sorice, Y Li, D Taliun, M Olden, M Foster, Q Yang, MH Chen, TH Pers, AD Johnson, YA Ko, C Fuchsberger, B Tayo, M Nalls, MF Feitosa, A Isaacs, A Dehghan, P d'Adamo, A Adeyemo, AK Dieffenbach, AB Zonderman, IM Nolte, PJ van der Most, AF Wright, AR Shuldiner, AC Morrison, A Hofman, AV Smith, AW Dreisbach, A Franke, AG Uitterlinden, A Metspalu, A Tonjes, A Lupo, A Robino, Å Johansson, A Demirkan, B Kollerits, BI Freedman, B Ponte, BA Oostra, B Paulweber, BK Krämer, BD Mitchell, BM Buckley, CA Peralta, C Hayward, C Helmer, CN Rotimi, CM Shaffer, C Müller, C Sala, CM van Duijn, A Saint-Pierre, D Ackermann, D Shriner, D Ruggiero, D Toniolo, Y Lu, D Cusi, D Czamara, D Ellinghaus, DS Siscovick, D Ruderfer, C Gieger, H Grallert, E Rochtchina, EJ Atkinson, EG Holliday, E Boerwinkle, E Salvi, EP Bottinger, F Murgia, F Rivadeneira, F Ernst, F Kronenberg, FB Hu, GJ Navis, GC Curhan, GB Ehret, G Homuth, S Coassin, GA Thun, G Pistis, G Gambaro, G Malerba, GW Montgomery, G Eiriksdottir, G Jacobs, G Li, HE Wichmann, H Campbell, H Schmidt, H Wallaschofski, H Völzke, H Brenner, HK Kroemer, H Kramer, H Lin, IM Leach, I Ford, I Guessous, I Rudan, I Prokopenko, I Borecki, IM Heid, I Kolcic, I Persico, JW Jukema, JF Wilson, JF Felix, J Divers, JC Lambert, JM Stafford, JM Gaspoz, JA Smith, JD Faul, JJ Wang, J Ding, JN Hirschhorn, J Attia, JB Whitfield, J Chalmers, J Viikari, J Coresh, JC Denny, J Karjalainen, JK Fernandes, K Endlich, K Butterbach, KL Keene, K Lohman, L Portas, LJ Launer, LP Lyytikäinen, L Yengo, L Franke, L Ferrucci, LM Rose, L Kedenko, M Rao, M Struchalin, ME Kleber, M Cavalieri, M Haun, MC Cornelis, M Ciullo, M Pirastu, M de Andrade, MA McEvoy, M Woodward, M Adam, M Cocca, M Nauck, M Imboden, M Waldenberger, M Pruijm, M Metzger, M Stumvoll, MK Evans, MM Sale, M Kähönen, M Boban, M Bochud, M Rheinberger, N Verweij, N Bouatia-Naji, NG Martin, N Hastie, N Probst-Hensch, N Soranzo, O Devuyst, O Raitakari, O Gottesman, OH Franco, O Polasek, P Gasparini, PB Munroe, PM Ridker, P Mitchell, P Muntner, C Meisinger, JH Smit, P Kovacs, PS Wild, P Froguel, R Rettig, R Mägi, R Biffar, R Schmidt, RP Middelberg, RJ Carroll, BW Penninx, RJ Scott, R Katz, S Sedaghat, SH Wild, SL Kardia, S Ulivi, SJ Hwang, S Enroth, S Kloiber, S Trompet, B Stengel, SJ Hancock, ST Turner, SE Rosas, S Stracke, TB Harris, T Zeller, T Zemunik, T Lehtimäki, T Illig, T Aspelund, T Nikopensius, T Esko, T Tanaka, U Gyllensten, U Völker, V Emilsson, V Vitart, V Aalto, V Gudnason, V Chouraki, WM Chen, W Igl, W März, W Koenig, W Lieb, RJ Loos, Y Liu, H Snieder, PP Pramstaller, A Parsa, JR O'Connell, K Susztak, P Hamet, J Tremblay, IH de Boer, CA Böger, W Goessling, DI Chasman, A Köttgen, WH Kao, CS Fox

TITLE:

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

JOURNAL:

Nature communications Jan 2016, Vol 7, pp. 10023

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. PUBMED: 26831199
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