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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-12

AUTHORS

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

ABSTRACT

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. More... »

PAGES

13

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/gm417

DOI

http://dx.doi.org/10.1186/gm417

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042502488

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23414815


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/gm417'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/gm417'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/gm417'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/gm417'


 

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