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

Johannes Raffler, Werner Römisch-Margl, Ann Kristin Petersen, Philipp Pagel, Florian Blöchl, Christian Hengstenberg, Thomas Illig, Christa Meisinger, Klaus Stark, H. Erich Wichmann, Jerzy Adamski, Christian Gieger, Gabi Kastenmüller, Karsten Suhre

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12 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article number13
JournalGenome Medicine
Volume5
Issue number2
DOIs
Publication statusPublished - 15 Feb 2013
Externally publishedYes

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ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Raffler, J., Römisch-Margl, W., Petersen, A. K., Pagel, P., Blöchl, F., Hengstenberg, C., Illig, T., Meisinger, C., Stark, K., Wichmann, H. E., Adamski, J., Gieger, C., Kastenmüller, G., & Suhre, K. (2013). Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma. Genome Medicine, 5(2), [13]. https://doi.org/10.1186/gm417