{"entity": "researcher", "timestamp": "2026-07-15T09:54:29.646Z", "family": "Fauman", "given": "Eric", "initials": "E", "orcid": "0000-0002-9739-0249", "affiliations": ["SCALLOP consortium.", "Internal Medicine Research Unit, Pfizer Worldwide Research, Development and Medical, Cambridge, MA, USA."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/33640d6d585f4715ad0754af256954fd.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/33640d6d585f4715ad0754af256954fd"}}, "publications": [{"entity": "publication", "iuid": "cbca211bcfb64e4f9988962d8cef7fdb", "links": {"self": {"href": "https://publications.scilifelab.se/publication/cbca211bcfb64e4f9988962d8cef7fdb.json"}, "display": {"href": "https://publications.scilifelab.se/publication/cbca211bcfb64e4f9988962d8cef7fdb"}}, "title": "Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.", "authors": [{"family": "Folkersen", "given": "Lasse", "initials": "L", "orcid": "0000-0003-0708-9530", "researcher": {"href": "https://publications.scilifelab.se/researcher/7202a83ff6484d5c9d77f448f93c6520.json"}}, {"family": "Gustafsson", "given": "Stefan", "initials": "S"}, {"family": "Wang", "given": "Qin", "initials": "Q"}, {"family": "Hansen", "given": "Daniel Hvidberg", "initials": "DH", "orcid": "0000-0003-3285-605X", "researcher": {"href": "https://publications.scilifelab.se/researcher/c74393b778ad4c989c6f6f2290eb5f94.json"}}, {"family": "Hedman", "given": "\u00c5sa K", "initials": "\u00c5K"}, {"family": "Schork", "given": "Andrew", "initials": "A"}, {"family": "Page", "given": "Karen", "initials": "K"}, {"family": "Zhernakova", "given": "Daria V", "initials": "DV"}, {"family": "Wu", "given": "Yang", "initials": "Y", "orcid": "0000-0002-0128-7280", "researcher": {"href": "https://publications.scilifelab.se/researcher/5c005cb8ac0a40c38b07b26fc3184354.json"}}, {"family": "Peters", "given": "James", "initials": "J"}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications.scilifelab.se/researcher/64611a83caba46d597f45371b77de26b.json"}}, {"family": "Bergen", "given": "Sarah E", "initials": "SE"}, {"family": "Boutin", "given": "Thibaud S", "initials": "TS"}, {"family": "Bretherick", "given": "Andrew D", "initials": "AD", "orcid": "0000-0001-9258-3140", "researcher": {"href": "https://publications.scilifelab.se/researcher/177c5c98460c44a79ff1f07c5df05b55.json"}}, {"family": "Enroth", "given": "Stefan", "initials": "S", "orcid": "0000-0002-5056-9137", "researcher": {"href": "https://publications.scilifelab.se/researcher/16bb97ef16ee49f3ae0c7ea0495fd971.json"}}, {"family": "Kalnapenkis", "given": "Anette", "initials": "A"}, {"family": "G\u00e5din", "given": "Jesper R", "initials": "JR"}, {"family": "Suur", "given": "Bianca E", "initials": "BE"}, {"family": "Chen", "given": "Yan", "initials": "Y"}, {"family": "Matic", "given": "Ljubica", "initials": "L"}, {"family": "Gale", "given": "Jeremy D", "initials": "JD"}, {"family": "Lee", "given": "Julie", "initials": "J", "orcid": "0000-0001-6090-6718", "researcher": {"href": "https://publications.scilifelab.se/researcher/724fc189ac8d4764a924f07fe7806058.json"}}, {"family": "Zhang", "given": "Weidong", "initials": "W"}, {"family": "Quazi", "given": "Amira", "initials": "A"}, {"family": "Ala-Korpela", "given": "Mika", "initials": "M", "orcid": "0000-0001-5905-1206", "researcher": {"href": "https://publications.scilifelab.se/researcher/9a1d51911c554533b4f458993efd95e7.json"}}, {"family": "Choi", "given": "Seung Hoan", "initials": "SH"}, {"family": "Claringbould", "given": "Annique", "initials": "A", "orcid": "0000-0002-9201-6557", "researcher": {"href": "https://publications.scilifelab.se/researcher/f273594a78dd47b88de6322bfae64900.json"}}, {"family": "Danesh", "given": "John", "initials": "J"}, {"family": "Davey Smith", "given": "George", "initials": "G", "orcid": "0000-0002-1407-8314", "researcher": {"href": "https://publications.scilifelab.se/researcher/0790d5850377432087ad3900af0044e0.json"}}, {"family": "de Masi", "given": "Federico", "initials": "F"}, {"family": "Elmst\u00e5hl", "given": "S\u00f6lve", "initials": "S"}, {"family": "Engstr\u00f6m", "given": "Gunnar", "initials": "G"}, {"family": "Fauman", "given": "Eric", "initials": "E", "orcid": "0000-0002-9739-0249", "researcher": {"href": "https://publications.scilifelab.se/researcher/33640d6d585f4715ad0754af256954fd.json"}}, {"family": "Fernandez", "given": "Celine", "initials": "C", "orcid": "0000-0003-1290-4982", "researcher": {"href": "https://publications.scilifelab.se/researcher/0403fdacd924464a913261e53f6e6083.json"}}, {"family": "Franke", "given": "Lude", "initials": "L", "orcid": "0000-0002-5159-8802", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee63161f78274a53b615c05555b81a10.json"}}, {"family": "Franks", "given": "Paul W", "initials": "PW", "orcid": "0000-0002-0520-7604", "researcher": {"href": "https://publications.scilifelab.se/researcher/1ebbf40c0f7e49dd8c75a2b6cbf27276.json"}}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V", "orcid": "0000-0003-3423-2021", "researcher": {"href": "https://publications.scilifelab.se/researcher/7c95879213664e00b66aeee2e8ece975.json"}}, {"family": "Haley", "given": "Chris", "initials": "C", "orcid": "0000-0002-9811-0210", "researcher": {"href": "https://publications.scilifelab.se/researcher/c4fee769cfe84186abbc285881e0529c.json"}}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "Ingason", "given": "Andres", "initials": "A"}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications.scilifelab.se/researcher/76265c54961046e99bdb0439f9ae1d34.json"}}, {"family": "Joshi", "given": "Peter K", "initials": "PK"}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM"}, {"family": "Lubitz", "given": "Steven", "initials": "S", "orcid": "0000-0002-9599-4866", "researcher": {"href": "https://publications.scilifelab.se/researcher/25bb007311104c92983dbcce80f72260.json"}}, {"family": "Palmer", "given": "Tom", "initials": "T", "orcid": "0000-0003-4655-4511", "researcher": {"href": "https://publications.scilifelab.se/researcher/7f71dc0736834c72a59b9b14f1ae471a.json"}}, {"family": "Macdonald-Dunlop", "given": "Erin", "initials": "E", "orcid": "0000-0001-6569-6086", "researcher": {"href": "https://publications.scilifelab.se/researcher/af015c7cf68b470cbca81fe7fa1b58c4.json"}}, {"family": "Magnusson", "given": "Martin", "initials": "M", "orcid": "0000-0003-1710-5936", "researcher": {"href": "https://publications.scilifelab.se/researcher/6126a96481bb4c398a6e8ab6fa596b28.json"}}, {"family": "Melander", "given": "Olle", "initials": "O"}, {"family": "Michaelsson", "given": "Karl", "initials": "K", "orcid": "0000-0003-2815-1217", "researcher": {"href": "https://publications.scilifelab.se/researcher/eff63868e95240f695d47e871e31947f.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "M\u00e4gi", "given": "Reedik", "initials": "R"}, {"family": "Nagle", "given": "Michael W", "initials": "MW", "orcid": "0000-0002-4677-7582", "researcher": {"href": "https://publications.scilifelab.se/researcher/5da07a509b1740648199997ee5ea73a3.json"}}, {"family": "Nilsson", "given": "Peter M", "initials": "PM", "orcid": "0000-0002-5652-8459", "researcher": {"href": "https://publications.scilifelab.se/researcher/f23c2a10ac2a4d73a8f62b94855635f1.json"}}, {"family": "Nilsson", "given": "Jan", "initials": "J", "orcid": "0000-0002-9752-7479", "researcher": {"href": "https://publications.scilifelab.se/researcher/8777140448bc47f0a7984db3c15c0e23.json"}}, {"family": "Orho-Melander", "given": "Marju", "initials": "M"}, {"family": "Polasek", "given": "Ozren", "initials": "O"}, {"family": "Prins", "given": "Bram", "initials": "B", "orcid": "0000-0001-5774-034X", "researcher": {"href": "https://publications.scilifelab.se/researcher/fd911c5f0da149afb2b4184892ed4b71.json"}}, {"family": "P\u00e5lsson", "given": "Erik", "initials": "E"}, {"family": "Qi", "given": "Ting", "initials": "T"}, {"family": "Sj\u00f6gren", "given": "Marketa", "initials": "M"}, {"family": "Sundstr\u00f6m", "given": "Johan", "initials": "J", "orcid": "0000-0003-2247-8454", "researcher": {"href": "https://publications.scilifelab.se/researcher/91a40d3c138d43f2b0d38f66be4b71c7.json"}}, {"family": "Surendran", "given": "Praveen", "initials": "P"}, {"family": "V\u00f5sa", "given": "Urmo", "initials": "U"}, {"family": "Werge", "given": "Thomas", "initials": "T", "orcid": "0000-0003-1829-0766", "researcher": {"href": "https://publications.scilifelab.se/researcher/89e727c9b54c4e23b9104fbc10b7b4e3.json"}}, {"family": "Wernersson", "given": "Rasmus", "initials": "R"}, {"family": "Westra", "given": "Harm-Jan", "initials": "H"}, {"family": "Yang", "given": "Jian", "initials": "J"}, {"family": "Zhernakova", "given": "Alexandra", "initials": "A"}, {"family": "\u00c4rnl\u00f6v", "given": "Johan", "initials": "J"}, {"family": "Fu", "given": "Jingyuan", "initials": "J", "orcid": "0000-0001-5578-1236", "researcher": {"href": "https://publications.scilifelab.se/researcher/e55de478e461486087cec6a8d073666f.json"}}, {"family": "Smith", "given": "J Gustav", "initials": "JG"}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T", "orcid": "0000-0003-1982-6569", "researcher": {"href": "https://publications.scilifelab.se/researcher/d72619c1e29d44e8b8454902d2af8d9e.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Landen", "given": "Mikael", "initials": "M", "orcid": "0000-0002-4496-6451", "researcher": {"href": "https://publications.scilifelab.se/researcher/792e2b8b8da94572a4d2815703d29749.json"}}, {"family": "Siegbahn", "given": "Agneta", "initials": "A"}, {"family": "Wilson", "given": "James F", "initials": "JF"}, {"family": "Wallentin", "given": "Lars", "initials": "L"}, {"family": "Butterworth", "given": "Adam S", "initials": "AS", "orcid": "0000-0002-6915-9015", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b8c140c80d942c4b1b684876e4d6180.json"}}, {"family": "Holmes", "given": "Michael V", "initials": "MV", "orcid": "0000-0001-6617-0879", "researcher": {"href": "https://publications.scilifelab.se/researcher/2fc91d91672d47fa9759a2af3e3f1f3a.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E", "orcid": "0000-0003-2256-6972", "researcher": {"href": "https://publications.scilifelab.se/researcher/689bc741ea6547d18de7080c84d0193e.json"}}, {"family": "M\u00e4larstig", "given": "Anders", "initials": "A", "orcid": "0000-0003-2608-1358", "researcher": {"href": "https://publications.scilifelab.se/researcher/e70c845d32264b448e0b4631b826be6d.json"}}], "type": "journal article", "published": "2020-10-00", "journal": {"title": "Nat Metab", "issn": "2522-5812", "issn-l": "2522-5812", "volume": "2", "issue": "10", "pages": "1135-1148"}, "abstract": "Circulating proteins are vital in human health and disease and are frequently used as biomarkers for clinical decision-making or as targets for pharmacological intervention. Here, we map and replicate protein quantitative trait loci (pQTL) for 90 cardiovascular proteins in over 30,000 individuals, resulting in 451 pQTLs for 85 proteins. For each protein, we further perform pathway mapping to obtain trans-pQTL gene and regulatory designations. We substantiate these regulatory findings with orthogonal evidence for trans-pQTLs using mouse knockdown experiments (ABCA1 and TRIB1) and clinical trial results (chemokine receptors CCR2 and CCR5), with consistent regulation. Finally, we evaluate known drug targets, and suggest new target candidates or repositioning opportunities using Mendelian randomization. This identifies 11 proteins with causal evidence of involvement in human disease that have not previously been targeted, including EGF, IL-16, PAPPA, SPON1, F3, ADM, CASP-8, CHI3L1, CXCL16, GDF15 and MMP-12. Taken together, these findings demonstrate the utility of large-scale mapping of the genetics of the proteome and provide a resource for future precision studies of circulating proteins in human health.", "doi": "10.1038/s42255-020-00287-2", "pmid": "33067605", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "Affinity Proteomics Uppsala": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s42255-020-00287-2"}, {"db": "pmc", "key": "PMC7611474"}, {"db": "mid", "key": "EMS131454"}], "notes": [], "created": "2020-10-20T06:59:28.770Z", "modified": "2024-11-27T16:17:54.447Z"}, {"entity": "publication", "iuid": "3833bdb907964e41b9acfb00520e1629", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3833bdb907964e41b9acfb00520e1629.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3833bdb907964e41b9acfb00520e1629"}}, "title": "Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.", "authors": [{"family": "Folkersen", "given": "Lasse", "initials": "L", "orcid": "0000-0003-0708-9530", "researcher": {"href": "https://publications.scilifelab.se/researcher/7202a83ff6484d5c9d77f448f93c6520.json"}}, {"family": "Fauman", "given": "Eric", "initials": "E", "orcid": "0000-0002-9739-0249", "researcher": {"href": "https://publications.scilifelab.se/researcher/33640d6d585f4715ad0754af256954fd.json"}}, {"family": "Sabater-Lleal", "given": "Maria", "initials": "M", "orcid": "0000-0002-0128-379X", "researcher": {"href": "https://publications.scilifelab.se/researcher/588239fdbde94de0b5de738fd9c7a8a9.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ"}, {"family": "Fr\u00e5nberg", "given": "Mattias", "initials": "M"}, {"family": "Sennblad", "given": "Bengt", "initials": "B"}, {"family": "Baldassarre", "given": "Damiano", "initials": "D", "orcid": "0000-0002-2766-8882", "researcher": {"href": "https://publications.scilifelab.se/researcher/0c131cad5784434eb16cf720f7964ecb.json"}}, {"family": "Veglia", "given": "Fabrizio", "initials": "F"}, {"family": "Humphries", "given": "Steve E", "initials": "SE", "orcid": "0000-0002-8221-6547", "researcher": {"href": "https://publications.scilifelab.se/researcher/7669b620701f4ebd97f91594c9a4989e.json"}}, {"family": "Rauramaa", "given": "Rainer", "initials": "R"}, {"family": "de Faire", "given": "Ulf", "initials": "U"}, {"family": "Smit", "given": "Andries J", "initials": "AJ"}, {"family": "Giral", "given": "Philippe", "initials": "P"}, {"family": "Kurl", "given": "Sudhir", "initials": "S"}, {"family": "Mannarino", "given": "Elmo", "initials": "E"}, {"family": "Enroth", "given": "Stefan", "initials": "S", "orcid": "0000-0002-5056-9137", "researcher": {"href": "https://publications.scilifelab.se/researcher/16bb97ef16ee49f3ae0c7ea0495fd971.json"}}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications.scilifelab.se/researcher/76265c54961046e99bdb0439f9ae1d34.json"}}, {"family": "Enroth", "given": "Sofia Bosdotter", "initials": "SB"}, {"family": "Gustafsson", "given": "Stefan", "initials": "S"}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Lindgren", "given": "Cecilia", "initials": "C"}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V"}, {"family": "Silveira", "given": "Angela", "initials": "A"}, {"family": "Franco-Cereceda", "given": "Anders", "initials": "A"}, {"family": "Tremoli", "given": "Elena", "initials": "E"}, {"family": "IMPROVE study group", "given": "", "initials": ""}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Brunak", "given": "S\u00f8ren", "initials": "S"}, {"family": "Eriksson", "given": "Per", "initials": "P", "orcid": "0000-0002-5635-2692", "researcher": {"href": "https://publications.scilifelab.se/researcher/247b26c7360d4032b9cecc81bfac3ed0.json"}}, {"family": "Ziemek", "given": "Daniel", "initials": "D"}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "M\u00e4larstig", "given": "Anders", "initials": "A", "orcid": "0000-0003-2608-1358", "researcher": {"href": "https://publications.scilifelab.se/researcher/e70c845d32264b448e0b4631b826be6d.json"}}], "type": "journal article", "published": "2017-04-00", "journal": {"title": "PLoS Genet.", "issn": "1553-7404", "issn-l": "1553-7390", "volume": "13", "issue": "4", "pages": "e1006706"}, "abstract": "Recent advances in highly multiplexed immunoassays have allowed systematic large-scale measurement of hundreds of plasma proteins in large cohort studies. In combination with genotyping, such studies offer the prospect to 1) identify mechanisms involved with regulation of protein expression in plasma, and 2) determine whether the plasma proteins are likely to be causally implicated in disease. We report here the results of genome-wide association (GWA) studies of 83 proteins considered relevant to cardiovascular disease (CVD), measured in 3,394 individuals with multiple CVD risk factors. We identified 79 genome-wide significant (p<5e-8) association signals, 55 of which replicated at P<0.0007 in separate validation studies (n = 2,639 individuals). Using automated text mining, manual curation, and network-based methods incorporating information on expression quantitative trait loci (eQTL), we propose plausible causal mechanisms for 25 trans-acting loci, including a potential post-translational regulation of stem cell factor by matrix metalloproteinase 9 and receptor-ligand pairs such as RANK-RANK ligand. Using public GWA study data, we further evaluate all 79 loci for their causal effect on coronary artery disease, and highlight several potentially causal associations. Overall, a majority of the plasma proteins studied showed evidence of regulation at the genetic level. Our results enable future studies of the causal architecture of human disease, which in turn should aid discovery of new drug targets.", "doi": "10.1371/journal.pgen.1006706", "pmid": "28369058", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Clinical Biomarkers": "Service", "PLA and Single Cell Proteomics": "Service", "Affinity Proteomics Uppsala": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "PGENETICS-D-16-01965"}, {"db": "pmc", "key": "PMC5393901"}], "notes": [], "created": "2017-10-25T15:18:21.171Z", "modified": "2024-01-16T13:48:48.159Z"}]}