A Table of all published GWAS with metabolomics

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Here you find references to all published mGWAS in humans, ordered by publication date. If a study is missing from this list, please let me know.

This table was initially published in Kastenmüller et al., Genetics of human metabolism: an update. Hum. Mol. Genet. 2015 and has been updated as of March 10, 2017.

Biofluid Metabolic trait(s) Traits (N) Platform Study population Cohort size (n) Loci (n) References
Serum Targeted MS 363 + all ratios MS (Biocrates) German 284 4 Gieger et al., 2008
Plasma and Serum Sphingolipids 33 + 43 ratios MS European 4400 5 Hicks et al., 2009
Serum Mainly phospholipids 163 + 26 406 ratios MS (Biocrates) German, British 1809 + 422 9 Illig et al., 2010
Urine NMR-derived metabolites 59 + 1661 ratios NMR (Chenomx) German 862 + 992 5 Suhre et al., 2011
Serum Non-targeted MS, knowns 276 + 37 179 ratios MS (Metabolon) German, British 1768 + 1052 37 Suhre et al., 2011
Urine and Plasma Urine: NMR peaks, plasma: mainly phospholipids Urine: 512 peaks plasma: 163 + ratios NMR + MS British 211 3 Nicholson et al., 2011
Serum Mainly lipid traits 117 + 99 ratios NMR (Brainshake) Finnish 8330 31 Kettunen et al., 2012
Plasma Phospholipids + sphingolipids 153 MS (Biocrates) European 4034 35 Demirkan et al., 2012
Serum Mainly lipid traits 117 + 99 ratios NMR Finnish 8330 30 Tukiainen et al., 2012
Serum Mainly lipid traits and low-weight metabolites 130 NMR (Brainshake) Finnish, British 1905 + 4703 34 Inouye et al., 2012
Serum Non-targeted MS, unknowns 517 MS (Metabolon) German 1768 34 Krumsiek et al., 2012
Urine NMR peaks 2425 NMR Brazil 265 2 Montoliu et al., 2013
Plasma NMR peaks 8600 + 124 750 ratios NMR German 1757 7 Raffler et al., 2013
Serum MS peaks 6138 MS Swedish 402 + 489 7 Hong et al., 2013
Plasma Amino acids, amines, polar metabolites, lipids 217 MS USA (European ancestry) 2076 31 Rhee et al., 2013
Urine NMR peaks 1276 NMR European, Brazil 835 + 601 11 Rueedi et al., 2014
Serum Non-targeted MS, knowns and unknowns 308 MS African American 1260 19 Yu et al., 2014
Serum Non-targeted MS, knowns and unknowns 486 + 98 346 ratios MS (Metabolon) European 7824 145 Shin et al., 2014
Serum Targeted MS (mainly phospholipids) + non-targeted MS (knowns) 344 (151 + 193) MS (Metabolon & Biocrates) European 1809 + 843 12 new Ried et al., 2014
Serum NMR-derived metabolites 42 NMR European 2118 8 Demirkan et al., 2015
Serum Mainly phospholipids 129 MS (Biocrates) European 7478 + 1182 31 Draisma et al., 2015
Urine NMR-derived metabolites and NMR peaks 15,379 features (incl. ratios) NMR European  3861 + 1691 26 Raffler et al., 2015
Plasma FIA-MS derived, mainly acylcarnitines and amino acids 63 MS US population 1490 + 2022 6 Kraus et al., 2015
Blood Lipoprotein lipids and subclasses, fatty acids, amino acids, glycolysis precursors 123 NMR (Brainshake) 14 cohorts from Europe 24,925 62 Kettunen et al., 2016
Plasma Non-targeted MS 217 LC-MS European-American 2076 + 1528 4 Rhee et al., 2016
Plasma Non-targeted MS with exome sequencing 308 LC-MS (Metabolon) African-Americans 1361 + 508 4
Yu et al., 2016
Plasma Caffeine metabolites 4 + 1 ratio UPLC- MS/MS or UPLC- ESI-MS/MS six population-based studies of European ancestry 9,876 4
Cornelius et al., 2016
Plasma targeted and Non-targeted MS 160 + 488 Biocrates + Metabolon TwinsUK study 1,001 twins 7 Yet et al., 2016
Plasma Non-targeted MS 644 Metabolon HD4 TwinsUK study 1,960 with three time points 101

(17 genes with potential LoF variants)

Long et al., 2017