Multiple New Loci Associated with Kidney Function and Chronic Kidney Disease: The CKDGen consortium

By A. Köttgen, C. Pattaro, C. Böger, Christian Fuchsberger, M. Olden, N. Glazer, A. Parsa, Xiaoyi Gao, Qiong Yang, Albert V. Smith and 122 more. Nature Genetics, 2010

799 citations recorded by the source corpus.

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 m2; n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide–significant loci (P < 5 × 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.

Subfields: Molecular Biology, Nephrology

View Paper: https://www.semanticscholar.org/paper/cc0f02a35723cbfc9af4cd83f1f874869f1af930

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Citations in the corpus

• Molecular mechanisms of diabetic kidney disease. (2014, positive): “Thus, while multiple SNPs have been found that associate with CKD and ESRD, loci associated with diabetic albuminuria have not been identified (19, 20).”
• Genome-Wide Association Study of Retinopathy in Individuals without Diabetes (2013, methodology): “This was accomplished by performing in silico look-ups in the Chronic Kidney Disease Genetics (CKDGen) consortium [38] (chronic kidney disease, microalbuminuria, urinary albumin/creatinine Table 2.”