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 May 19, 2018 (all links are now pointing directly to the publishers’ sites).

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 focusing on carnitine pathways with whole genome sequencing 16 LC-MS European-American 1,456 2
Yazdani 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
Plasma Non-targeted MS 826 Metabolon HD4 Qatari 614 (exome seq) + 382 (2.5 Omni array) 21 common + 12 rare variants Yousri et al., 2018
Plasma Amino acids 9 NMR non-diabetic
Finnish men
8545 5 common + 2 rare/gene-based Teslovich et al., 2018