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 Jan 24, 2018.
| 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 |
| 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 |
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