Affiliation: University Hospital
Teumer A, Tin A, Sorice R, Gorski M, Yeo N, Chu A, et al
. Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes. Diabetes. 2016;65:803-17 pubmed publisher
..Relative expression of RAB38 was higher in tubuli of patients with diabetic kidney disease compared with control subjects. The loci identified here confirm known pathways and highlight novel pathways influencing albuminuria. ..
Sekula P, Goek O, Quaye L, Barrios C, Levey A, RÃ¶misch Margl W, et al
. A Metabolome-Wide Association Study of Kidney Function and Disease in the General Population. J Am Soc Nephrol. 2016;27:1175-88 pubmed publisher
..In conclusion, our study provides a comprehensive list of kidney function-associated metabolites and highlights potential novel filtration markers that may help to improve the estimation of GFR. ..
Tin A, Li Y, Brody J, Nutile T, Chu A, Huffman J, et al
. Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels. Nat Commun. 2018;9:4228 pubmed publisher
..These findings provide new insights into the genetic architecture of serum urate, and highlight molecular targets in SLC22A12 and SLC2A9 for lowering serum urate and preventing gout. ..
Jing J, Ekici A, Sitter T, Eckardt K, Schaeffner E, Li Y, et al
. Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease. Sci Rep. 2018;8:13184 pubmed publisher
..CKD patients are at high risk of gout due to reduced kidney function, diuretics intake and genetic predisposition, making treatment to target challenging. ..
Wuttke M, Schaefer F, Wong C, KÃ¶ttgen A. Genome-wide association studies in nephrology: using known associations for data checks. Am J Kidney Dis. 2015;65:217-22 pubmed publisher
..In this perspective, we give recommendations for the appropriate selection of control traits and SNPs that can be used for data checks prior to conducting GWAS among patients with CKD. ..
Li Y, Sekula P, Wuttke M, Wahrheit J, Hausknecht B, Schultheiss U, et al
. Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. J Am Soc Nephrol. 2018;29:1513-1524 pubmed publisher
..b>Conclusions Metabolomic indices of specific kidney functions in genetic studies may provide insight into human renal physiology. ..
Kottgen A, Raffler J, Sekula P, Kastenmüller G. Genome-Wide Association Studies of Metabolite Concentrations (mGWAS): Relevance for Nephrology. Semin Nephrol. 2018;38:151-174 pubmed publisher
Jing J, Pattaro C, Hoppmann A, Okada Y, Fox C, KÃ¶ttgen A. Combination of mouse models and genomewide association studies highlights novel genes associated with human kidney function. Kidney Int. 2016;90:764-73 pubmed publisher
..Thus, our novel approach to combine comprehensive mouse phenotype information with human genomewide association studies data resulted in the identification of candidate genes for kidney disease pathogenesis. ..
Li M, Maruthur N, Loomis S, Pietzner M, North K, Mei H, et al
. Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism. Sci Rep. 2017;7:2812 pubmed publisher