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

Nuclear magnetic resonance spectroscopy (NMR) provides robust readouts of many metabolic parameters in one experiment. However, identification of clinically relevant markers in (1)H NMR spectra is a major challenge. Association of NMR-derived quantities with genetic variants can uncover biologically...

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Detalles Bibliográficos
Autores principales: Raffler, Johannes, Römisch-Margl, Werner, Petersen, Ann-Kristin, Pagel, Philipp, Blöchl, Florian, Hengstenberg, Christian, Illig, Thomas, Meisinger, Christa, Stark, Klaus, Wichmann, H-Erich, Adamski, Jerzy, Gieger, Christian, Kastenmüller, Gabi, Suhre, Karsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706909/
https://www.ncbi.nlm.nih.gov/pubmed/23414815
http://dx.doi.org/10.1186/gm417
Descripción
Sumario:Nuclear magnetic resonance spectroscopy (NMR) provides robust readouts of many metabolic parameters in one experiment. However, identification of clinically relevant markers in (1)H 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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