Here you find all published genome-wide association studies with multiplexed protein traits in blood (pGWAS). If a study is missing from this list, please let me know.
This table was initially published as Supplementary Table 1 in Suhre et al. (2017) and has been updated as of November 9, 2019 with six (!) pQTL studies reported at the ASHG 2019 meeting.
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 proteins, try the Proteomics GWAS Server [read this post].
The Proteome PheWAS browser is a great tool to find out which proteins may be causal for certain diseases – using Mendelian Randomization [read the paper on BioRxiv].
Olink-improve – Genetics of the Cardiovascular Proteome is a web-server for pQTLs of the Olink platform.
| Reference | Study population | #Samples in study | #Proteins assayed | #pQTLs reported | Platform type |
|---|---|---|---|---|---|
| Melzer et al. (PLoS Genet, 2008) | Population study | 1200 | 42 | 8 | Immuno-assay |
| Lourdusamy et al. (Hum Mol Genet, 2012) | Elderly Europeans | 96 | 778 | 60 | Aptamer-based (SOMAscan v1) |
| Johansson et al. (PNAS, 2013) | Two population cohorts | 1060 | 163 | 5 | Mass-spectrometry |
| Kim et al. (PLoS One, 2013) | Altzheimer's disease cohort | 521 | 132 | 28 | Immuno-assay |
| Orru et al. (Cell, 2013) | Individuals from four clustered Sardinian villages | 1629 | 272 | 23 | Immune traits (not really proteomics) |
| Stark et al. (PLoS Genetics, 2014) | Yoruba HapMap lymphoblastoid cell lines | 68 | 441 | NA | Micro-western and reverse phase protein arrays |
| Enroth et al. (Nature Comm, 2014) | Population study | 970 | 77 | 18 | Immuno-assay |
| Kauve et al., (PLoS Genet., 2014) | CSF fluid from two Altzheimer's disease cohorts | 574 | 59 | 5 | Immuno-assay for proteins relevant to Altzheimer's disease |
| Liu et al. (Mol Syst Biol, 2015) | Female twins | 113 | 342 | 18 | Mass-spectrometry |
| Sun et al. (PLOS Genetics, 2016) | Current and former smokers with and without COPD (SPIROMICS & COPDGene ) | 1340 | 88 | 527 | Multiplex immuno assays (Myriad-RBM) |
| Deming et al. (Sci Rep, 2016) | Alzheimer cohort | 818 | 146 | 56 | Immuno-assay |
| Solomon et al. (Circ Cardiovasc Genet, 2016) | Population study | 330 | 51 | 27 | Immuno-assay for proteins implicated in cardiovascular diseases |
| Ahola-Olli et al. (Am J Hum Genet, 2017) | Population study | 8293 | 48 | 27 | Immuno-assay for cytokines and growth factors |
| Di Narzo et al. (PLoS Genet, 2017) | Inflammatory bowel disease (IBD) patients | 187 | 1128 | 41 | Aptamer-based (SOMAscan 1.1k) |
| Suhre et al. (Nature Comm, 2017) | KORA and QMDiab study (Germany and Qatar) | 1335 | 1124 | 539 | Aptamer-based (SOMAscan 1.1k) |
| Sasayama et al. (Hum Mol Genet, 2017) | CSF fluid from a Japanese population | 133 | 1126 | 476 | Aptamer-based (SOMAscan 1.1k) |
| Folkersen et al. (PLoS Genet., 2017) | Population study | 3394 | 83 | 79 | Immuno-assay for proteins implicated in cardiovascular diseases |
| de Vries et al. (Hum. Mol. Genet., 2017) | 1,552 European Americans and 1,872 African Americans (ARIC study) | 3424 | 25 | 22 | Mass-spectrometry (small peptide subset of the non-targeted Metabolon metabolomics platform) |
| Ahsan et al. (PLoS Genet., 2017) | Population study | 1033 | 121 | 45 | Antibody-based proximity extension assay |
| Carayol et al. (Nature Comm, 2017) | Obese subjects | 494 | 1129 | 55 | Aptamer-based (SOMAscan 1.1k) |
| Benson et al. (Circulation, 2017) | Framingham Heart Study and Malmö Diet and Cancer Study | 2180 | 1129 | 161 | Aptamer-based, array based genotyping and exome seq |
| Patin et al. (Nature Immunology, 2018) | unrelated, Western European ancestry, Milieu Intérieur cohort | 1000 | 87 | 36 | Mean fluorescence intensity (MFI), cell surface marker (not really proteomics) |
| Sun et al. (Nature, 2018); pre-print on bioRxiv | Interval study (UK blood donors) | 3301 | 2994 | 1927 | Aptamer-based (SOMAscan in-house) |
| Emilsson et al. (Science, 2018) | AGES Reykjavik study (Islanders over 65) | 5457 | 4137 | 1957 | Aptamer-based (SOMAscan in-house) |
| Yao et al. (Nature Comm, 2018); pre-print on bioRxiv | Framingham Heart Study | 6861 | 71 | 105 | Immuno-assay for proteins implicated in cardiovascular diseases, replication aptamer-based |
| Ruffieux et al., ASHG 2018 abstract, now on bioRxiv | Optifast Canadian cohort & DiOGenes cohort | 2433 | 1230 | 136 | MS proteomics (130 proteins) and Aptamer-based (1100 proteins) |
| Sliz et al. (J. Med. Genet., 2019), pre-print on bioRxiv | Northern Finland Birth Cohort 1966 + meta-analysis in N=13,577 | 5284 | 16 | 16 | Immuno-assay (Luminex / Milliplex, targeting chemokines & cytokines) |
| Mirauta et al. (BioRxiv, 2018) | Human induced pluripotent stem cell lines (iPSC) | 202 | NA | 712 | Tandem Mass Tag Mass Spectrometry (TMT-MS) |
| Zhernakova et al. (Nature Gen. 2018) | LifeLines Dutch population cohort | 1264 | 92 | 214 | Immuno-assay (Olink CVD II panel) |
| Solomon et al. (Circulation: Genomic and Precision Medicine, 2018) | Tromsø Study | 165 | 664 | 60 | Tandem mass tag mass spectrometry, with whole-exome sequencing |
| Zheng et al. (BioRxiv, 2019) | A Mendelian Randomization study based on pGWAS (somewhat out of scope for this table, but VERY interesting) | NA | 1002 | NA | Proteome PheWAS browser |
| Hillary et al. (Nat. Comm., 2019) | Lothian Birth Cohort 1936 | 750 | 92 | 41 | Immuno-assay (Olink neurology panel) |
| Peters et al. (ASHG 2019 abstract) | SCALLOP consortium | 15335 | 92 | at least one pQTL for 71 out of 91 proteins; 12 had cis pQTLs only, 14 trans only, and 45 both cis and trans | Immuno-assay (Olink INF panel) |
| Wilson et al. (ASHG 2019 abstract) | SCALLOP consortium | 19578 | 184 | 22,518 genome-wide significant SNPs | Immuno-assay (Olink CVD II & III panels) |
| Malarstig et al. (ASHG 2019 abstract) | SCALLOP consortium | 21758 | 92 | 467 | Immuno-assay (Olink CVD-I panel) |
| Klaric et al. (ASHG 2019 abstract) | genetically isolated ORCADES cohort (Scotland) | 1059 | 1102 | 3,545 pQTLs between 374 proteins and 968 genes mapping to 377 genomic regions | Immuno-assay (multiple Olink panels) |
| Yang et al. (ASHG 2019 abstract) | CSF fluid, Alzheimer's disease, cases and controls | 520 | 713 | 82 proteins with cis-pQTLs, 20 proteins with novel trans-pQTLs | Probably aptamer-based (SOMAscan 1.3k) |
| Robins et al. (ASHG 2019 abstract) | Dorsolateral prefrontal cortex (DLPFC) tissue from ROSMAP | 144 cognitively unimpaired participants | 8002 (tested in cis) | 100 SNPs associated with 78 proteins | Tandem mass tag (TMT) proteomics of brain tissue |
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