| 65b | Blood | Viñuela_medRxiv_2021_targeted | Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study | 3029 | European | Illumina HumanCore array (HCE24 v1.0) | BIOCRATES (AbsoluteIDQ™ p150 kit) | 5e-08 | |
| 65a | Blood | Viñuela_medRxiv_2021_untargeted | Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study | 3029 | European | Illumina HumanCore array (HCE24 v1.0) | Metabolon (LC-MS/MS) | 5e-08 | |
| 64 | Blood | Qin_medRxiv_2020 | Genome-wide association and Mendelian randomization analysis prioritizes bioactive metabolites with putative causal effects on common diseases | 8738 | European | Illumina genome-wide SNP arrays (HumanCoreExome BeadChip, Human610-Quad BeadChip and HumanOmniExpress) | Thermo Q Exactive Orbitrap | 4.5e-12 | |
| 63 | Blood | Borges_UKBB_2020 | Metabolic biomarkers in the UK Biobank measured by Nightingale Health 2020 | 500000 | European | Affymetrix genome-wide genotyping array | Nightingale NMR | 5e-08 | |
| 62 | Blood | Montasser_bioRxiv_2021 | Leveraging a founder population to identify novel rare-population genetic determinants of lipidome | 650 | Old Order Amish founder population | Affymetrix 500K array | Agilent (6550 Q-TOF LC/MS) | 5e-08 | |
| 61 | Mitochondria | Aboulmaouahib_HMG_2021 | First mitochondrial genome wide association study with metabolomics | 2718 | European | Illumina MiSeq | BIOCRATES (AbsoluteIDQ™ p150 kit) | 1e-05 | |
| 60 | Blood | Harshfield_BM_2021 | Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci | 13814+5662 | European+South Asian | Illumina 660-Quad, Illumina HumanOmniExpress, Affymetrix | Thermo Q Exactive Orbitrap | 8.9e-10 | |
| 59 | Blood | Luo_KI_2021 | Genome-wide association study of serum metabolites in the African American Study of Kidney Disease and Hypertension | 619 | African American | Illumina Infinium Multi-Ethnic Global BeadChip array | Metabolon HD4 | 1e-10 | |
| 58 | Blood | Wang_CTM_2021 | Genome-wide association study of metabolites in patients with coronary artery disease identified novel metabolite quantitative trait loci | 1028+523 | Han Chinese | Illumina Infinium GSA-24 v1.0 bead chip | SCIEX (QTRAP 6500 LC-MS/MS) | 2.57e-10 | |
| 57 | Urine | Cheng_NC_2021 | Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism | 4864 | European | Illumina Omni2.5Exome BeadChip arrays | Thermo Q Exactive Orbitrap | 2e-06 | |
| 56 | CSF | Panyard_CB_2021 | Cerebrospinal fluid metabolomics identifies 19 brain-related phenotype associations | 689 | European | Illumina HumanOmniExpress-12v1_A, Infinium HumanOmniExpressExome-8 v1-2a, and Infinium Global Screening Array v1-0 BeadChip | Metabolon UPLC-MS/MS | 5e-08 | |
| 55 | Blood | Feofanova_AJHG_2020 | A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos | 3926+1509 | European+Hispanic | Illumina Omni 2.5M array (HumanOmni2.5-8v1-1) | Metabolon HD4 | 5e-08 | |
| 54 | Blood | Lotta_NG_2021 | A cross-platform approach identifies genetic regulators of human metabolism and health | 30138 | European | Affymetrix Axiom or Affymetrix SNP5.0 genotyping array | BIOCRATES (AbsoluteIDQ™ p180, p150 kit), Metabolon HD4, Nightingale NMR | 4.9e-10 | |
| 53 | Saliva | Nag_HMG_2020 | Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels | 1419+1000 | European | Illumina: 300K Duo and HumanHap610-Quad arrays | Metabolon UPLC-MS | 1e-10 | |
| 52 | Urine | Schlosser_NG_2020 | Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans | 1221 + 406 | European | Illumina Omni2.5Exome BeadChip array | Metabolon UPLC–MS/MS | 4.3e-11 | |
| 51 | Blood | de_Oliveira_Otto_PO_2018 | Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium | 11494 | European | Affymetrix 6.0, Illumina 370, Illumina 550k, 610Q, 660Q, Affymetrix 6.0, Illumina OmniExpress and CardioMetabochip | gas chromatography | 5e-08 | |
| 50 | Blood | Kalsbeek_PO_2018 | A genome-wide association study of red-blood cell fatty acids and ratios incorporating dietary covariates: Framingham Heart Study Offspring Cohort | 2374 | European | Affymetrix 500K and a 50K Human Gene Focused Panel array | gas chromatography | 5e-08 | |
| 49 | Blood | Feofanova_G_2018 | Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study | 1872+1552 | European +African American | WES: Illumina GAII or HiSeq; WGS: Illumina Hisequation 2000 | Metabolon (GC/LC-MS) | 5e-08 | |
| 48 | Blood | Teslovich_HMG_2018 | Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study | 8545+2591 | European | Illumina HumanOmniExpresss-12v1_C BeadChip (OmniExpress) and Infinium HumanExome-12 v1.0 BeadChip (Exome Chip) | NMR | 5e-08 | |
| 47 | Blood | Yousri_NC_2018 | Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population | 614+382 | Qatari | Illumina HiSeq 2000 exome sequencing | Metabolon HD4 | 1.4e-07 | |
| 46 | Blood | Davis_PG_2017 | Common, low- frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study | 8372 | European | Illumina HumanOmniExpress-12v1_C BeadChip and Infinium HumanExome-12 v1.0 BeadChip | NMR | 5e-08 | |
| 45 | Blood | de_Vries_HMG_2017 | Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study | 1552+1872 | European + African Americans | Illumina Hiseq 2000 whole genome sequencing | Metabolon | 4.2e-10 | |
| 44 | Blood | Hu_JLR_2017 | Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations | 3521+12020 | European + Chinese | Illumina 370, 550, and 660W genotyping array, Affymetrix 6.0 genotyping array | gas chromatography | 5e-08 | |
| 43 | Blood | Long_NG_2017 | A. Whole- genome sequencing identifies common-to-rare variants associated with human blood metabolites | 1960 | European | Illumina HiSeqX whole genome sequencing | Metabolon (RP)/UPLC–MS/MS, HILIC/UPLC–MS/MS, Orbitrap mass analyzer | 5e-08 | |
| 42 | Blood | Lotta_PM_2016 | Genetic Predisposition to an Impaired Metabolism of the Branched- Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis | 16596 | European | Affymetrix Genome-Wide Human SNP Array 5.0, Affymetrix UK Biobank Axiom Array, Illumina 660w quad, Illumina CoreExome chip | BIOCRATES (AbsoluteIDQ™ p180 kit), Metabolon DiscoveryHD4 | 5e-08 | |
| 41 | Blood | Yu_GB_2016 | Whole genome sequence analysis of serum amino acid levels | 1872+1552 | European +African American | Illumina GAII or HiSeq exome sequencing+Illumina Hiseq 2000 whole genome sequencing | Metabolon (GC-MS and LC-MS) | 5e-08 | |
| 40 | Blood | Cornelis_HMG_2016 | Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior | 9876 | European | Illumina GWAS arrays, Illumina Metabochip array | UPLC-MS/MS, UPLC-ESI-MS/MS | 5e-08 | |
| 39 | Blood | Rhee_NC_2016 | An exome array study of the plasma metabolome | 2076+1528 | European | Illumina HumanExome BeadChip | AB SCIEX (5500 QTRAP triple quadrupole), Metabolon (GC-MS and LC-MS) | 5e-08 | |
| 38 | Blood | Fall_D_2016 | Non- targeted metabolomics combined with genetic analyses identifies bile acid synthesis and phospholipid metabolism as being associated with incident type 2 diabetes | 1138+970+1630 | European | SNP&SEQ genome-wide genotyping array | non-targeted UPLC-MS | 5e-08 | |
| 37 | Blood | Yazdani_GE_2016 | Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis | 1456 | European | Illumina whole genome sequencing | GC-MS and LC-MS | 5e-08 | |
| 36 | Blood | Yet_PO_2016 | Genetic Influences on Metabolite Levels: A Comparison across Metabolomic Platforms | 1001 | European | Illumina arrays (HumanHap300, HumanHap610Q, 1M-Duo and 1.2MDuo) | BIOCRATES (AbsoluteIDQ™ p150 kit), Metabolon | 5e-08 | |
| 35 | Blood | Kettunen_NC_2016 | Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA | 24925 | European | Genome-wide genotyping array (Affymetrix, Illumina, Perlegen) | NMR | 5e-08 | |
| 34 | Blood | Hartiala_NC_2016 | Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease | 1985+1895+400 | European | Affymetrix Genome-Wide Human Array 6.0 chip | ABI SCIEX QTRAP 5500 | 5e-08 | |
| 33 | Blood | Hu_HMG_2016 | Genome-wide meta-analyses identify novel loci associated with n-3 and n-6 polyunsaturated fatty acid levels in Chinese and European-ancestry populations | 2685+656+8866+8962 | European | Illumina Human660W and Affymetrix 6.0 genotyping array | Agilent 6890 gas chromatography | 5e-08 | |
| 32 | Blood | Kraus_PG_2015 | Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis | 1490+2022 | American | Illumina Human Omni1-Quad Infinium Bead Chip | MS | 3e-07 | |
| 31 | Blood | Burkhardt_PG_2015 | Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood | 2107 | European | Affymetrix Axiom SNP array | Applied Biosystems API 2000 LC-MS/MS | 1e-07 | |
| 30 | Urine | Raffler_PG_2015 | Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality | 3861+1691 | European | Affymetrix Human SNP Array 6.0 gene chips | Bruker DRX-400 NMR | 3.25e-12 | |
| 29 | Blood | Draisma_NC_2015 | Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels | 7478+1182 | European | Genome-wide genotyping array (Affymetrix, Illumina) | BIOCRATES (AbsoluteIDQ™ p150 kit) | 5e-08 | |
| 28 | Blood | Mozaffarian_AJCN_2014 | Genetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium | 8013 | European +African American + Chinese +Hispanic | Illumina HumanCNV370-Duo BeadChip, Illumina HumanOmni 1-Quad_v1 BeadChip, Illumina Infinium II assay, Affymetrix Genome-Wide Human SNP Array 6.0 | Agilent 5890 gas-chromatography | 5e-08 | |
| 27 | Blood | Yu_CCG_2015 | Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease | 1152+718+753 | European | Illumina Omni 5M, Roche Nimblegen’s VChrome2.1, Illumina HiSeq 2000 (exome) | Metabolon LC-MS | 5e-08 | |
| 26 | Blood | Demirkan_PG_2015 | Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses | 2118 | European | Illumina Infinium HumanHap300v2, HumanHap300v1 or HumanCNV370v1 SNP bead microarrays, Illumina Hiseq2000 (exome) | Bruker Avance II NMR | 5e-08 | |
| 25 | Blood | Tintle_PLEFA_2014 | A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study | 2633 | European | Affymetrix 500K and MIPS 50K chips | gas chromatography | 5e-08 | |
| 24 | Blood | Lemaitre_JLR_2015 | Genetic loci associated with circulating levels of very long- chain saturated fatty acids | 10129 | European | Illumina’s Infinium II assay, Illumina HumanCNV370-Duo BeadChip, Affymetrix 6.0 | gas chromatography | 5e-08 | |
| 23 | Blood | Guan_CCG_2014 | Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium | 8631 | European | Affymetrix 6.0, Illumina 370, Illumina 550 | gas chromatography | 5e-08 | |
| 22 | Blood | Shin_NG_2014 | An atlas of genetic influences on human blood metabolites | 7824 | European | Affymetrix 6.0, Illumina arrays (HumanHap300, HumanHap610Q, 1M-Duo and 1.2MDuo) | Metabolon GC-MS or UPLC-MS/MS | 5e-08 | |
| 21 | Blood | Yu_PG_2014 | Genetic determinants influencing human serum metabolome among African Americans | 1260 | African American | Affymetrix 6.0 | Metabolon (GC-MS and LC-MS) | 1.6e-10 | |
| 20 | Urine | Rueedi_PG_2014 | Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links | 835+601 | European + Brazil | Illumina Human Omni-Quad1 | Bruker Avance II 700 MHz NMR | 5e-08 | |
| 19 | Blood | Yu_GE_2013 | Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study | 1260 | African | Affymetrix 6.0 | Metabolon (GC-MS and LC-MS) | 5e-08 | |
| 18 | Blood | Rhee_CM_2013 | A genome-wide association study of the human metabolome in a community-based cohort | 2076 | European | Affymetrix 500K mapping array and Affymetrix 50K gene-focused MIP array | AB SCIEX (5500 QTRAP triple quadrupole) | 5e-08 | |
| 17 | Blood | Raffler_GM_2013 | Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma | 1757 | European | Affymetrix 6.0 | Bruker 600 MHz NMR, BIOCRATES (AbsoluteIDQ™ p150 kit), Metabolon (UHPLC/MS/MS and GC-MS) | 5e-08 | |
| 16 | Blood | Xie_D_2013 | Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes | 1004+341 | European | Affymetrix 6.0 | UHPLC-MS/MS | 5e-08 | |
| 15 | Blood | Wu_CCG_2013 | Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium | 8961 | European | Affymetrix 6.0, Illumina 370, Illumina 550 | gas chromatography | 5e-08 | |
| 14 | Blood | Hong_HM_2013 | A genome-wide assessment of variability in human serum metabolism | 402+489 | European | Affymetrix 500K and 5.0K | UPLC–MS | 5e-08 | |
| 13 | Blood | Krumsiek_PG_2012 | Mining the unknown: a systems approach to metabolite identification combining genetic and metabolic information | 1768 | European | Affymetrix 6.0 | Metabolon (MS) | 5e-08 | |
| 12 | Blood | Inouye_PG_2012 | Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis | 1905+4703 | European | Illumina 670 BeadArray and Illumina 370CNVduo | NMR | 4.5e-09 | |
| 11 | Blood | Demirkan_PG_2012 | Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations | 4043 | European | Illumina Infinium HumanHap300v2, HumanHap300v1, HumanCNV370v1 SNP bead microarrays | ESIMS/MS | 5e-08 | |
| 10 | Blood | Kettunen_NG_2012 | Genome-wide association study identifies multiple loci influencing human serum metabolite levels | 8330 | European | Illumina HumanHap 610k | NMR | 5e-08 | |
| 9 | Blood | Tukiainen_HMG_2012 | Detailed metabolic and genetic characterization reveals new associations for 30 known lipid loci | 8330 | European | Illumina HumanHap CNV 370k, Illumina HumanHap 610k, Illumina HumanHap 670k | NMR | 5e-08 | |
| 8 | Blood | Nicholson_PG_2011 | A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection | 211 | European | Illumina 317K | BIOCRATES (AbsoluteIDQ™ p150 kit), Bruker DRX 600 MHz NMR | 5e-08 | |
| 7 | Blood | Suhre_N_2011 | Human metabolic individuality in biomedical and pharmaceutical research | 1768+1052 | European | Affymetrix 6.0, Illumina (HumanHap300, HumanHap610Q, 1M-Duo and 1.2MDuo 1M) | Metabolon (UHPLC/MS/MS2 and GC/MS) | 5e-08 | |
| 6 | Blood | Lemaitre_PG_2011 | Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium | 8866 | European | Affymetrix 6.0, Illumina 370, Illumina 550 | gas chromatography | 5e-08 | |
| 5 | Urine | Suhre_NG_2011 | A genome-wide association study of metabolic traits in human urine | 862 | European | Affymetrix 6.0 | Bruker DRX-400 NMR | 4.5e-11 | |
| 4 | Blood | Illig_NG_2010 | A genome-wide perspective of genetic variation in human metabolism | 1809+422 | European | Affymetrix 6.0, Illumina Hap317K | Biocrates AbsoluteIDQ | 5e-08 | |
| 3 | Blood | Hicks_PG_2009 | Genetic determinants of circulating sphingolipid concentrations in European populations | 4400 | European | Illumina Infinium HumanHap300v2, HumanCNV370v1 | ESI-MS/MS | 5e-08 | |
| 2 | Blood | Tanaka_PG_2009 | Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study | 1210+1076 | European | Illumina Infinium HumanHap550 | gas chromatography | 5e-08 | |
| 1 | Blood | Gieger_PG_2008 | Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum | 284 | European | Affymetrix 500K | Biocrates (ESI-MS/MS) | 5e-08 | |
