rs1024171 - SRP14P4 - GM2AP2

Magnitude 2.2 · 1 study on file

Reported associations

• Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine - Unknown journal (n.d.) · Unknown authors · PubMed 37277652

  ABSTRACT: The kidneys operate at the interface of plasma and urine by clearing molecular waste products while retaining valuable solutes. Genetic studies of paired plasma and urine metabolomes may identify underlying processes. We conducted genome-wide studies of 1,916 plasma and urine metabolites and detected 1,299 significant associations. Associations with 40% of implicated metabolites would have been missed by studying plasma alone. We detected urine-specific findings that provide information about metabolite reabsorption in the kidney, such as aquaporin (AQP)-7-mediated glycerol transport, and different metabolomic footprints of kidney-expressed proteins in plasma and urine that are consistent with their localization and function, including the transporters NaDC3 (SLC13A3) and ASBT (S

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