Table 1 Recent metabolomics studies that investigated disease associations with small-molecule features in plasma or serum from prospective cohorts
From: Redefining environmental exposure for disease etiology
Phenotype | Cohort | Cases/controls | Follow-up (y) | Analytical platform | Design | Exposure variables | Likely associations | Refs. |
|---|---|---|---|---|---|---|---|---|
Cardiovasculardisease | Gene Bank | 75/75 | ≤3 | LC-MS | Untargeted | 40 Metabolites (out of >2000 detected features) that met ‘acceptance criteria’ | 18 Small-molecule features of which choline, betaine, and TMAO were annotated | |
Type 1 diabetes | DIPP | 56/73 | 3.7 | LC-MS | Targeted | 53 Lipids | Children who progressed to T1D were deficient in triglycerides and phosphatidyl cholines (possible choline deficiency) | |
Type 2 diabetes | FHS | 189/189 | 12 | LC-MS | Targeted | 61 Polar metabolites and>100 Lipids | Branched-chain and aromatic amino acids increased risk; sets of lipids increased or decreased risk depending on chain length and double bonds | |
Type 2 diabetes | SCHS | 197/197 | 6 | LC-MS and GC-MS | Untargeted | 4859 Polar and nonpolar metabolites | 35 Significant associations including branched-chain amino acids & nonesterified fatty acids and lysophosphatadylinositols | |
Pre-diabetes | KORA | IFG:102/866, IGT:238/866 | 7 | LC-MS | Targeted | 140 Lipids, amino acids, and biogenic amines | 26 Associations, with glycine, LPC (18:2), and acetylcarnitine being the strongest | |
Gastric cancer | EPIC | 238/626 | 3.2 | GC-MS | Targeted | 22 Phospholipid fatty acids | Oleic acid, a-linolenic acid, and di-homo-g-linolenic acid | |
Breast cancer | EPIC | 363/702 | 7 | GC-MS | Targeted | 22 Phospholipid fatty acids | Trans-palmitoleic and elaidic acids | |
Hepatocellular carcinoma | EPIC | 114/122 | >2 | NMR | Untargeted | 8500 NMR bins reduced to 285 clusters of variables | Clusters of sugars, amino acids, lipids and nutrients | |
Colorectal cancer | WHI-OS | 835/835 | 5.2 | LC-MS | Targeted | Choline and its metabolites | TMAO and betaine/choline ratio | |
Colorectal cancer | EPIC | 1367/2323 | 3.7 | LC-MS | Targeted | Methionine, choline, betaine and dimethylglycine | Weak associations with methionine, choline and betaine | |
Colorectal cancer | PLCO | 254/254 | 7.8 | LC-MS and GC-MS | Untargeted | 268 Annotated metabolites detected in >80% of specimens | Glycochenodeoxycholate in women but not men | |
Pancreatic cancer | HPFS, NHS, PHS, WHI-OS | 454/908 | 8.7 | LC-MS | Targeted | 83 Polar metabolites | Branched-chain amino acids | |
Prostate cancer | ATBC | 200/200 | ≤20 | LC-MS & GC-MS | Untargeted | 626 Annotated metabolites detected in >95% of specimens | None after Bonferroni correction | |
Hepatobiliary cancers | EPIC | HCC:147/147, IHBC:43/43, GBTC:134/134 | 9.6 | LC-MS | Targeted | 28 Amino acids, biogenic amines, and total hexoses | HCC: 14 Molecules, mainly branched-chain and aromatic amino acids |
