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

THRESHOLD:

<= 4e-08

GENES IN THRESHOLD:

3

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-10-22

SPECIES:

AUTHORS:

C Pattaro, A Köttgen, A Teumer, M Garnaas, CA Böger, C Fuchsberger, M Olden, MH Chen, A Tin, D Taliun, M Li, X Gao, M Gorski, Q Yang, C Hundertmark, MC Foster, CM O'Seaghdha, N Glazer, A Isaacs, CT Liu, AV Smith, JR O'Connell, M Struchalin, T Tanaka, G Li, AD Johnson, HJ Gierman, M Feitosa, SJ Hwang, EJ Atkinson, K Lohman, MC Cornelis, Å Johansson, A Tönjes, A Dehghan, V Chouraki, EG Holliday, R Sorice, Z Kutalik, T Lehtimäki, T Esko, H Deshmukh, S Ulivi, AY Chu, F Murgia, S Trompet, M Imboden, B Kollerits, G Pistis, TB Harris, LJ Launer, T Aspelund, G Eiriksdottir, BD Mitchell, E Boerwinkle, H Schmidt, M Cavalieri, M Rao, FB Hu, A Demirkan, BA Oostra, M de Andrade, ST Turner, J Ding, JS Andrews, BI Freedman, W Koenig, T Illig, A Döring, HE Wichmann, I Kolcic, T Zemunik, M Boban, C Minelli, HE Wheeler, W Igl, G Zaboli, SH Wild, AF Wright, H Campbell, D Ellinghaus, U Nöthlings, G Jacobs, R Biffar, K Endlich, F Ernst, G Homuth, HK Kroemer, M Nauck, S Stracke, U Völker, H Völzke, P Kovacs, M Stumvoll, R Mägi, A Hofman, AG Uitterlinden, F Rivadeneira, YS Aulchenko, O Polasek, N Hastie, V Vitart, C Helmer, JJ Wang, D Ruggiero, S Bergmann, M Kähönen, J Viikari, T Nikopensius, M Province, S Ketkar, H Colhoun, A Doney, A Robino, F Giulianini, BK Krämer, L Portas, I Ford, BM Buckley, M Adam, GA Thun, B Paulweber, M Haun, C Sala, M Metzger, P Mitchell, M Ciullo, SK Kim, P Vollenweider, O Raitakari, A Metspalu, C Palmer, P Gasparini, M Pirastu, JW Jukema, NM Probst-Hensch, F Kronenberg, D Toniolo, V Gudnason, AR Shuldiner, J Coresh, R Schmidt, L Ferrucci, DS Siscovick, CM van Duijn, I Borecki, SL Kardia, Y Liu, GC Curhan, I Rudan, U Gyllensten, JF Wilson, A Franke, PP Pramstaller, R Rettig, I Prokopenko, JC Witteman, C Hayward, P Ridker, A Parsa, M Bochud, IM Heid, W Goessling, DI Chasman, WH Kao, CS Fox

TITLE:

Genome-wide association and functional follow-up reveals new loci for kidney function.

JOURNAL:

PLoS genetics None 2012, Vol 8, pp. e1002584

ABSTRACT:

Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD. PUBMED: 22479191
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