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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.

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

Genome Med. 5:13 (2013)
Verlagsversion Verlagsversion DOI PMC
Open Access Gold
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Genome-wide Association ; Hdl-cholesterol Concentrations ; Type-2 Diabetes Risk ; Susceptibility Loci ; Triglyceride Levels ; Fasting Glucose ; Acid Intake ; Population ; Disease ; Metabolomics
Sprache englisch
Veröffentlichungsjahr 2013
HGF-Berichtsjahr 2013
ISSN (print) / ISBN 1756-994X
e-ISSN 1756-994X
Zeitschrift Genome Medicine
Quellenangaben Band: 5, Heft: 2, Seiten: , Artikelnummer: 13 Supplement: ,
Verlag BioMed Central
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Bioinformatics and Systems Biology (IBIS)
Institute of Genetic Epidemiology (IGE)
Research Unit Molecular Epidemiology (AME)
Institute of Epidemiology (EPI)
Molekulare Endokrinologie und Metabolismus (MEM)
POF Topic(s) 30505 - New Technologies for Biomedical Discoveries
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
30503 - Chronic Diseases of the Lung and Allergies

30201 - Metabolic Health
Forschungsfeld(er) Enabling and Novel Technologies
Genetics and Epidemiology
PSP-Element(e) G-503700-001
G-504100-001
G-504200-001
G-504000-006
G-503900-001
G-503900-002
G-505600-001
G-504090-001
PubMed ID 23414815
DOI 10.1186/gm417
WOS ID WOS:000320384500001
Scopus ID 84873714655
Erfassungsdatum 2013-02-20
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