Published in
BioMed Central, Genome Medicine, 2(5), p. 13
DOI: 10.1186/gm417
Links
- ORCID
- ORCID
- ORCID
- ORCID
- BioMed Central | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [www.researchgate.net] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [europepmc.org] | PDF
- [epub.ub.uni-muenchen.de] | PDF
Tools
Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma
,
Werner Römisch-Margl,
Ann-Kristin Petersen,
Philipp Pagel,
Florian Blöchl,
Christian Hengstenberg,
Thomas Illig,
Christa Meisinger ,
Klaus Stark,
H.-Erich Wichmann,
H. Erich Wichmann,
Jerzy Adamski,
Christian Gieger ,
Gabi Kastenmüller,
Karsten Suhre
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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.