rs12410239 - SLC1A7 - CPT2

Magnitude 2.2 · 1 study on file

Reported associations

• Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans - Unknown journal (n.d.) · Unknown authors · PubMed 31959995

  ABSTRACT: The kidneys integrate information from continuous systemic processes related to the absorption, distribution, metabolism and excretion (ADME) of metabolites. To identify underlying molecular mechanisms, we performed genome-wide association studies of the urinary concentrations of 1,172 metabolites among 1,627 patients with reduced kidney function. The 240 unique metabolite-locus associations (metabolite quantitative trait loci, mQTLs) that were identified and replicated highlight novel candidate substrates for transport proteins. The identified genes are enriched in ADME-relevant tissues and cell types, and they reveal novel candidates for biotransformation and detoxification reactions. Fine mapping of mQTLs and integration with single-cell gene expression permitted the priorit

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