Köttgen et al., 2010

https://pubmed.ncbi.nlm.nih.gov/20383146/

New loci associated with kidney function and chronic kidney diseas

Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea < 60 ml/min/1.73 m(2); n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide-significant loci (P < 5 x 10(-8)) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3). These results further our understanding of the biologic mechanisms of kidney function by identifying loci that potentially influence nephrogenesis, podocyte function, angiogenesis, solute transport and metabolic functions of the kidney.

Data set description

All files are based on analyses in the overall samples of participants of European ancestry.
Within each file, the data are presented as follows:
- rsID: rs-identifier
- allele1: is the coded allele
- allele2: is the noncoded allele
- freqA1: is the frequency of allele1 from the Hapmap CEU sample
- direction: refers to the direction of effect for allele1. Can be +/-/0
- pval: is the double GC corrected p-value

Phenotypes

eGFRcrea, n=67,093
eGFRcys, n=20,957
CKD, n=62,237

Citation

Reference The preferred citation is as follows:

Köttgen A, Pattaro C, Böger CA, et al. New loci associated with kidney function and chronic kidney disease. Nat Genet 2010 May;42(5):376-84.