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 Renal function and chronic kidney disease. The EFO term renal system measurement 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: renal system measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

A Köttgen, NL Glazer, A Dehghan, SJ Hwang, R Katz, M Li, Q Yang, V Gudnason, LJ Launer, TB Harris, AV Smith, DE Arking, BC Astor, E Boerwinkle, GB Ehret, I Ruczinski, RB Scharpf, YD Chen, IH de Boer, T Haritunians, T Lumley, M Sarnak, D Siscovick, EJ Benjamin, D Levy, A Upadhyay, YS Aulchenko, A Hofman, F Rivadeneira, AG Uitterlinden, CM van Duijn, DI Chasman, G Paré, PM Ridker, WH Kao, JC Witteman, J Coresh, MG Shlipak, CS Fox

TITLE:

Multiple loci associated with indices of renal function and chronic kidney disease.

JOURNAL:

Nature genetics Jun 2009, Vol 41, pp. 712-7

ABSTRACT:

Chronic kidney disease (CKD) has a heritable component and is an important global public health problem because of its high prevalence and morbidity. We conducted genome-wide association studies (GWAS) to identify susceptibility loci for glomerular filtration rate, estimated by serum creatinine (eGFRcrea) and cystatin C (eGFRcys), and CKD (eGFRcrea < 60 ml/min/1.73 m(2)) in European-ancestry participants of four population-based cohorts (ARIC, CHS, FHS, RS; n = 19,877; 2,388 CKD cases), and tested for replication in 21,466 participants (1,932 CKD cases). We identified significant SNP associations (P < 5 × 10(-8)) with CKD at the UMOD locus, with eGFRcrea at UMOD, SHROOM3 and GATM-SPATA5L1, and with eGFRcys at CST and STC1. UMOD encodes the most common protein in human urine, Tamm-Horsfall protein, and rare mutations in UMOD cause mendelian forms of kidney disease. Our findings provide new insights into CKD pathogenesis and underscore the importance of common genetic variants influencing renal function and disease. PUBMED: 19430482
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