About: A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection     Goto   Sponge   NotDistinct   Permalink

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Description
  • We have performed a metabolite quantitative trait locus (mQTL) study of the (1)H nuclear magnetic resonance spectroscopy ((1)H NMR) metabolome in humans, building on recent targeted knowledge of genetic drivers of metabolic regulation. Urine and plasma samples were collected from two cohorts of individuals of European descent, with one cohort comprised of female twins donating samples longitudinally. Sample metabolite concentrations were quantified by (1)H NMR and tested for association with genome-wide single-nucleotide polymorphisms (SNPs). Four metabolites' concentrations exhibited significant, replicable association with SNP variation (8.6x10(-11)<p<2.8x10(-23)). Three of these-trimethylamine, 3-amino-isobutyrate, and an N-acetylated compound-were measured in urine. The other-dimethylamine-was measured in plasma. Trimethylamine and dimethylamine mapped to a single genetic region (hence we report a total of three implicated genomic regions). Two of the three hit regions lie within haplot
  • We have performed a metabolite quantitative trait locus (mQTL) study of the (1)H nuclear magnetic resonance spectroscopy ((1)H NMR) metabolome in humans, building on recent targeted knowledge of genetic drivers of metabolic regulation. Urine and plasma samples were collected from two cohorts of individuals of European descent, with one cohort comprised of female twins donating samples longitudinally. Sample metabolite concentrations were quantified by (1)H NMR and tested for association with genome-wide single-nucleotide polymorphisms (SNPs). Four metabolites' concentrations exhibited significant, replicable association with SNP variation (8.6x10(-11)<p<2.8x10(-23)). Three of these-trimethylamine, 3-amino-isobutyrate, and an N-acetylated compound-were measured in urine. The other-dimethylamine-was measured in plasma. Trimethylamine and dimethylamine mapped to a single genetic region (hence we report a total of three implicated genomic regions). Two of the three hit regions lie within haplot (en)
Title
  • A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection
  • A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection (en)
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  • A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection
  • A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection (en)
skos:notation
  • RIV/00216208:11120/11:00003863!RIV12-MSM-11120___
http://linked.open...avai/riv/aktivita
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  • 183821
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  • RIV/00216208:11120/11:00003863
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  • Chronic Kidney-Disease; Human Gene-Expression; Molecular Networks; Nmr-Spectroscopy; Blood-Pressure; Association; Plasma (en)
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  • US - Spojené státy americké
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  • [F613D1198B57]
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  • PLOS Genetics
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  • 7
http://linked.open...iv/tvurceVysledku
  • Nicholson, George
  • Štich, Vladimír
http://linked.open...ain/vavai/riv/wos
  • 000295419100023
issn
  • 1553-7390
number of pages
http://bibframe.org/vocab/doi
  • 10.1371/journal.pgen.1002270
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  • 11120
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