Raffler, J, et al., Identification and Ms Assisted Interpretation of Genetically Influenced Nmr Signals in Human Plasma. Genome Medicine, 2013. 5(13):


Nuclear magnetic resonance spectroscopy (NMR) provides robust readouts of many metabolic parameters in oneexperiment. However, identification of clinically relevant markers in 1H NMR spectra is a major challenge.Association of NMR-derived quantities with genetic variants can uncover biologically relevant metabolic traits.Using NMR data of plasma samples from 1,757 individuals from the KORA study together with 655,658 geneticvariants, we show that ratios between NMR intensities at two chemical shift positions can provide informative androbust biomarkers. We report seven loci of genetic association with NMR-derived traits (APOA1, CETP, CPS1, GCKR,FADS1, LIPC, PYROXD2) and characterize these traits biochemically using mass spectrometry. These ratios may nowbe used in clinical studies.

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