Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma. Academic Article uri icon

Overview

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.

publication date

  • February 15, 2013

Identity

PubMed Central ID

  • PMC3706909

Scopus Document Identifier

  • 80054710464

Digital Object Identifier (DOI)

  • 10.1021/ac201625f

PubMed ID

  • 23414815

Additional Document Info

volume

  • 5

issue

  • 2