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A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection
Authors:Nicholson George  Rantalainen Mattias  Li Jia V  Maher Anthony D  Malmodin Daniel  Ahmadi Kourosh R  Faber Johan H  Barrett Amy  Min Josine L  Rayner N William  Toft Henrik  Krestyaninova Maria  Viksna Juris  Neogi Sudeshna Guha  Dumas Marc-Emmanuel  Sarkans Ugis;MolPAGE Consortium  Donnelly Peter  Illig Thomas  Adamski Jerzy  Suhre Karsten  Allen Maxine  Zondervan Krina T  Spector Tim D  Nicholson Jeremy K  Lindon John C  Baunsgaard Dorrit  Holmes Elaine  McCarthy Mark I  Holmes Chris C
Institution:Department of Statistics, University of Oxford, Oxford, United Kingdom. nicholso@stats.ox.ac.uk
Abstract: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 (8.6×10(-11)
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