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. Please note that I do not apply a strict inclusion criterion for what I would call a GWAS with metabolomics, or rather a GWAS with biochemical traits (such as a GWAS with cholesterol levels). The latter are well covered by the GWAS catalogue.
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 September 09, 2018. If you are interested in associations at specific loci you may also use the SNiPA block annotation tool [read this post], and if you are looking for associations specific to certain metabolites, try the Metabolomics GWAS Server [read this post].
| Biofluid | Metabolic traits | Platform | Study population | # Traits | Cohort size | # Loci | Reference |
|---|---|---|---|---|---|---|---|
| Serum | Targeted MS | MS (Biocrates) | German | 363 + all ratios | 284 | 4 | Gieger et al., 2008 |
| Plasma and Serum | Sphingolipids | MS | European | 33 + 43 ratios | 4400 | 5 | Hicks et al., 2009 |
| Serum | Mainly phospholipids | MS (Biocrates) | German, British | 163 + 26 406 ratios | 1809 + 422 | 9 | Illig et al., 2010 |
| Urine | NMR-derived metabolites | NMR (Chenomx) | German | 59 + 1661 ratios | 862 + 992 | 5 | Suhre et al., 2011 |
| Serum | Non-targeted MS, knowns | MS (Metabolon) | German, British | 276 + 37 179 ratios | 1768 + 1052 | 37 | Suhre et al., 2011 |
| Urine and Plasma | Urine: NMR peaks, plasma: mainly phospholipids | NMR + MS | British | Urine: 512 peaks plasma: 163 + ratios | 211 | 3 | Nicholson et al., 2011 |
| Serum | Mainly lipid traits | NMR (Brainshake) | Finnish | 117 + 99 ratios | 8330 | 31 | Kettunen et al., 2012 |
| Plasma | Phospholipids + sphingolipids | MS (Biocrates) | European | 153 | 4034 | 35 | Demirkan et al., 2012 |
| Serum | Mainly lipid traits | NMR | Finnish | 117 + 99 ratios | 8330 | 30 | Tukiainen et al., 2012 |
| Serum | Mainly lipid traits and low-weight metabolites | NMR (Brainshake) | Finnish, British | 130 | 1905 + 4703 | 34 | Inouye et al., 2012 |
| Serum | Non-targeted MS, unknowns | MS (Metabolon) | German | 517 | 1768 | 34 | Krumsiek et al., 2012 |
| Urine | NMR peaks | NMR | Brazil | 2425 | 265 | 2 | Montoliu et al., 2013 |
| Plasma | NMR peaks | NMR | German | 8600 + 124 750 ratios | 1757 | 7 | Raffler et al., 2013 |
| Plasma | fatty acids 16:0, 16:1n-7, 18:0, and 18:1n-9 | GC | 5 European cohorts | 4 | 8961 | 7 | Wu et al., 2013 |
| Serum | MS peaks | MS | Swedish | 6138 | 402 + 489 | 7 | Hong et al., 2013 |
| Plasma | Amino acids, amines, polar metabolites, lipids | MS | USA (European ancestry) | 217 | 2076 | 31 | Rhee et al., 2013 |
| Urine | NMR peaks | NMR | European, Brazil | 1276 | 835 + 601 | 11 | Rueedi et al., 2014 |
| Serum | Non-targeted MS, knowns and unknowns | MS | African American | 308 | 1260 | 19 | Yu et al., 2014 |
| Serum | Non-targeted MS, knowns and unknowns | MS (Metabolon) | European | 486 + 98 346 ratios | 7824 | 145 | Shin et al., 2014 |
| Serum | Targeted MS (mainly phospholipids) + non-targeted MS (knowns) | MS (Metabolon & Biocrates) | European | 344 (151 + 193) | 1809 + 843 | 12 new | Ried et al., 2014 |
| Serum | NMR-derived metabolites | NMR | European | 42 | 2118 | 8 | Demirkan et al., 2015 |
| Serum | Mainly phospholipids | MS (Biocrates) | European | 129 | 7478 + 1182 | 31 | Draisma et al., 2015 |
| Blood | Circulating trans fatty acids | Diverse | 7 cohorts of European-ancestry, replication in 3 non-European cohorts | >5-7 (study dependent) | 8013 + (1082 + 669 + 657) | 1 (31 SNPs in FADS1/2 cluster) | Mozaffarian et al., 2015 |
| Urine | NMR-derived metabolites and NMR peaks | NMR | European | 15,379 features (incl. ratios) | 3861 + 1691 | 26 | Raffler et al., 2015 |
| Blood | Amino Acids and Acylcarnitines | MS | European | 96 | 2,107 | 16 | Burkhardt et al., 2015 |
| Plasma | FIA-MS derived, mainly acylcarnitines and amino acids | MS | US population | 63 | 1490 + 2022 | 6 | Kraus et al., 2015 |
| RBC | Fatty acids in RBCs | GC | Framingham Heart Study | 14 | 2633 | 5 | Tintle et al., 2015 |
| Blood | Lipoprotein lipids and subclasses, fatty acids, amino acids, glycolysis precursors | NMR (Brainshake) | 14 cohorts from Europe | 123 | 24,925 | 62 | Kettunen et al., 2016 |
| Plasma | Non-targeted MS | LC-MS | European-American | 217 | 2076 + 1528 | 4 | Rhee et al., 2016 |
| Plasma | Non-targeted MS focusing on carnitine pathways with whole genome sequencing | LC-MS | European-American | 16 | 1,456 | 2 | Yazdani et al., 2016 |
| Plasma | Non-targeted MS with exome sequencing | LC-MS (Metabolon) | African-Americans | 308 | 1361 + 508 | 4 | Yu et al., 2016 |
| Plasma | Caffeine metabolites | UPLC- MS/MS or UPLC- ESI-MS/MS | six population-based studies of European ancestry | 4 + 1 ratio | 9,876 | 4 | Cornelius et al., 2016 |
| Plasma | targeted and Non-targeted MS | Biocrates + Metabolon | TwinsUK study | 160 + 488 | 1,001 twins | 7 | Yet et al., 2016 |
| Plasma | Non-targeted MS | Metabolon HD4 | TwinsUK study | 644 | 1,960 with three time points | 101 (17 genes with potential LoF variants) | Long et al., 2017 |
| Plasma | Non-targeted MS | Metabolon HD4 | Qatari | 826 | 614 (exome seq) + 382 (2.5 Omni array) | 21 common + 12 rare variants | Yousri et al., 2018 |
| Plasma | Amino acids | NMR | non-diabetic Finnish men | 9 | 8545 | 5 common + 2 rare/gene-based | Teslovich et al., 2018 |
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