Genome-wide association studies of metabolites in patients with CKD identify multiple loci and illuminate tubular transport mechanisms
Y Li, P Sekula, M Wuttke, J Wahrheit… - Journal of the …, 2018 - journals.lww.com
Background The kidneys have a central role in the generation, turnover, transport, and
excretion of metabolites, and these functions can be altered in CKD. Genetic studies of
metabolite concentrations can identify proteins performing these functions. Methods We
conducted genome-wide association studies and aggregate rare variant tests of the
concentrations of 139 serum metabolites and 41 urine metabolites, as well as their pairwise
ratios and fractional excretions in up to 1168 patients with CKD. Results After correction for …
excretion of metabolites, and these functions can be altered in CKD. Genetic studies of
metabolite concentrations can identify proteins performing these functions. Methods We
conducted genome-wide association studies and aggregate rare variant tests of the
concentrations of 139 serum metabolites and 41 urine metabolites, as well as their pairwise
ratios and fractional excretions in up to 1168 patients with CKD. Results After correction for …