作者: George Nicholson , Mattias Rantalainen , Jia V Li , Anthony D Maher , Daniel Malmodin
DOI: 10.1371/JOURNAL.PGEN.1002270
关键词:
摘要: We have performed a metabolite quantitative trait locus (mQTL) study of the 1H nuclear magnetic resonance spectroscopy (1H NMR) metabolome in humans, building on recent targeted knowledge genetic drivers metabolic regulation. Urine and plasma samples were collected from two cohorts individuals European descent, with one cohort comprised female twins donating longitudinally. Sample concentrations quantified by NMR tested for association genome-wide single-nucleotide polymorphisms (SNPs). Four metabolites' exhibited significant, replicable SNP variation (8.6×10−11