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Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma.

Genome Med. 5:13 (2013)
Publishers Version DOI PMC
Open Access Gold
as soon as is submitted to ZB.
Nuclear magnetic resonance spectroscopy (NMR) provides robust readouts of many metabolic parameters in one experiment. 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 genetic variants, we show that ratios between NMR intensities at two chemical shift positions can provide informative and robust 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 now be used in clinical studies.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide Association ; Hdl-cholesterol Concentrations ; Type-2 Diabetes Risk ; Susceptibility Loci ; Triglyceride Levels ; Fasting Glucose ; Acid Intake ; Population ; Disease ; Metabolomics
Reviewing status