{"entity": "researcher", "timestamp": "2026-08-20T21:37:44.838Z", "family": "Kokkola", "given": "Tarja", "initials": "T", "orcid": "0000-0002-3303-3912", "affiliations": ["Internal Medicine, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/fc389880431a46e49fcbe0eae12908ea.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/fc389880431a46e49fcbe0eae12908ea"}}, "publications": [{"entity": "publication", "iuid": "97dcb877641d4da1b812ef995b72d5d3", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/97dcb877641d4da1b812ef995b72d5d3.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/97dcb877641d4da1b812ef995b72d5d3"}}, "title": "Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits.", "authors": [{"family": "Brown", "given": "Andrew A", "initials": "AA", "orcid": "0000-0002-8087-3033", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b690d27df56b44dc8a070e4265afc8ca.json"}}, {"family": "Fernandez-Tajes", "given": "Juan J", "initials": "JJ"}, {"family": "Hong", "given": "Mun-Gwan", "initials": "MG", "orcid": "0000-0001-8603-8293", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d12504acae5c4f31b83f75c3d7786cd4.json"}}, {"family": "Brorsson", "given": "Caroline A", "initials": "CA"}, {"family": "Koivula", "given": "Robert W", "initials": "RW"}, {"family": "Davtian", "given": "David", "initials": "D"}, {"family": "Dupuis", "given": "Th\u00e9o", "initials": "T"}, {"family": "Sartori", "given": "Ambra", "initials": "A"}, {"family": "Michalettou", "given": "Theodora-Dafni", "initials": "TD", "orcid": "0000-0003-2119-1099", "researcher": {"href": 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"https://publications-affiliated.scilifelab.se/researcher/fb98d0951469460d8e87bbd7e71741db.json"}}, {"family": "Kokkola", "given": "Tarja", "initials": "T", "orcid": "0000-0002-3303-3912", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fc389880431a46e49fcbe0eae12908ea.json"}}, {"family": "Laakso", "given": "Markku", "initials": "M", "orcid": "0000-0002-3394-7749", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81c631c24b2e4c479ac6976eab7b1e88.json"}}, {"family": "Mahajan", "given": "Anubha", "initials": "A"}, {"family": "Mari", "given": "Andrea", "initials": "A", "orcid": "0000-0002-1436-5591", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3b7dd1ab06074d1188e40713d8807c48.json"}}, {"family": "McDonald", "given": "Timothy J", "initials": "TJ"}, {"family": "McEvoy", "given": "Donna", "initials": "D"}, {"family": "Mourby", "given": "Miranda", "initials": "M"}, {"family": "Musholt", "given": "Petra B", "initials": "PB"}, {"family": "Nilsson", "given": "Birgitte", "initials": "B"}, {"family": "Pattou", "given": "Francois", "initials": "F", "orcid": "0000-0001-8388-3766", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0769cc7e166943cb98978c45c12d749a.json"}}, {"family": "Penet", "given": "Deborah", "initials": "D"}, {"family": "Raverdy", "given": "Violeta", "initials": "V"}, {"family": "Ridderstr\u00e5le", "given": "Martin", "initials": "M"}, {"family": "Romano", "given": "Luciana", "initials": "L"}, {"family": "Rutters", "given": "Femke", "initials": "F"}, {"family": "Sharma", "given": "Sapna", "initials": "S"}, {"family": "Teare", "given": "Harriet", "initials": "H"}, {"family": "'t Hart", "given": "Leen", "initials": "L", "orcid": "0000-0003-4401-2938", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c36c8ed413ed4d6f975341fe511035e3.json"}}, {"family": "Tsirigos", "given": "Konstantinos D", "initials": "KD"}, {"family": "Vangipurapu", "given": "Jagadish", "initials": "J"}, {"family": "Vestergaard", "given": "Henrik", "initials": "H", "orcid": "0000-0003-3090-269X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e2fa5c4f74894d6a833afd105ec72848.json"}}, {"family": "Brunak", "given": "S\u00f8ren", "initials": "S"}, {"family": "Franks", "given": "Paul W", "initials": "PW", "orcid": "0000-0002-0520-7604", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8263a26f474946de8b61a2080051d37b.json"}}, {"family": "Frost", "given": "Gary", "initials": "G", "orcid": "0000-0003-0529-6325", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/894534933d064d1f802f1690ea56f162.json"}}, {"family": "Grallert", "given": "Harald", "initials": "H"}, {"family": "Jablonka", "given": "Bernd", "initials": "B"}, {"family": "McCarthy", "given": "Mark I", "initials": "MI"}, {"family": "Pavo", "given": "Imre", "initials": "I", "orcid": "0000-0002-2016-7049", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1691b459fdb84772b1e8595e8de617f3.json"}}, {"family": "Pedersen", "given": "Oluf", "initials": "O", "orcid": "0000-0002-3321-3972", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a0ef37542aea4e67a322b0d6179cd59e.json"}}, {"family": "Ruetten", "given": "Hartmut", "initials": "H"}, {"family": "Walker", "given": "Mark", "initials": "M"}, {"family": "DIRECT Consortium", "given": "", "initials": ""}, {"family": "Adamski", "given": "Jerzy", "initials": "J", "orcid": "0000-0001-9259-0199", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6871f2a0d4414a58be2e7f26a59d3ca9.json"}}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/022e140799b6466ea123319c3d70c76e.json"}}, {"family": "Pearson", "given": "Ewan R", "initials": "ER", "orcid": "0000-0001-9237-8585", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e27e9e47f1cc4a969268eb5a65b8045b.json"}}, {"family": "Dermitzakis", "given": "Emmanouil T", "initials": "ET", "orcid": "0000-0002-9302-6490", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6683f17defc34cad9389fd7fef36aca4.json"}}, {"family": "Vi\u00f1uela", "given": "Ana", "initials": "A", "orcid": "0000-0003-3771-8537", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02cba70871df48eb84c17e82f95baae4.json"}}], "type": "journal article", "published": "2023-08-21", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "14", "issue": "1", "pages": "5062", "issn-l": "2041-1723"}, "abstract": "We evaluate the shared genetic regulation of mRNA molecules, proteins and metabolites derived from whole blood from 3029 human donors. We find abundant allelic heterogeneity, where multiple variants regulate a particular molecular phenotype, and pleiotropy, where a single variant associates with multiple molecular phenotypes over multiple genomic regions. The highest proportion of share genetic regulation is detected between gene expression and proteins (66.6%), with a further median shared genetic associations across 49 different tissues of 78.3% and 62.4% between plasma proteins and gene expression. We represent the genetic and molecular associations in networks including 2828 known GWAS variants, showing that GWAS variants are more often connected to gene expression in trans than other molecular phenotypes in the network. Our work provides a roadmap to understanding molecular networks and deriving the underlying mechanism of action of GWAS variants using different molecular phenotypes in an accessible tissue.", "doi": "10.1038/s41467-023-40569-3", "pmid": "37604891", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10442420"}, {"db": "pii", "key": "10.1038/s41467-023-40569-3"}], "notes": [], "created": "2026-08-20T08:52:44.576Z", "modified": "2026-08-20T08:52:45.407Z"}, {"entity": "publication", "iuid": "0a5faded2b8248c6be219660ec518362", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/0a5faded2b8248c6be219660ec518362.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/0a5faded2b8248c6be219660ec518362"}}, "title": "Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study", "authors": [{"family": "Vi\u00f1uela", "given": "Ana", "initials": "A", "orcid": "0000-0003-3771-8537", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02cba70871df48eb84c17e82f95baae4.json"}}, {"family": "Brown", "given": "Andrew A", "initials": "AA", "orcid": "0000-0002-8087-3033", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b690d27df56b44dc8a070e4265afc8ca.json"}}, {"family": "Fernandez", "given": "Juan", "initials": "J"}, {"family": "Hong", "given": "Mun Gwan", "initials": "MG", "orcid": "0000-0001-8603-8293", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d12504acae5c4f31b83f75c3d7786cd4.json"}}, {"family": "Brorsson", "given": "Caroline A", "initials": "CA", "orcid": "0000-0003-3473-1744", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/93356b705c444fe883e86e24c76f8abd.json"}}, {"family": "Koivula", "given": "Robert W", "initials": "RW", "orcid": "0000-0002-1646-4163", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2ceb821c78774b9f8931463351046f1f.json"}}, {"family": "Davtian", "given": "David", "initials": "D", "orcid": "0000-0001-8785-3126", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e71fda3af4a94ee2bb6d84f6a3687c06.json"}}, {"family": "Dupuis", "given": "Th\u00e9o", "initials": "T"}, {"family": "Forgie", "given": "Ian M", "initials": "IM", "orcid": "0000-0002-8800-6145", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0a6af8dca397443db706aeb078df7e92.json"}}, {"family": "Adam", "given": "Jonathan", "initials": "J"}, {"family": "Allin", "given": "Kristine H", "initials": "KH"}, {"family": "Caiazzo", "given": "Robert", "initials": "R"}, {"family": "Cederberg", "given": "Henna", "initials": "H"}, {"family": "De Masi", "given": "Federico", "initials": "F"}, {"family": "Elders", "given": "Petra J M", "initials": "PJM"}, {"family": "Giordano", "given": "Giuseppe N", "initials": "GN"}, {"family": "Haid", "given": "Mark", "initials": "M", "orcid": "0000-0001-6118-1333", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c4398da6ddb245bdb982ac3a0b352c40.json"}}, {"family": "Hansen", "given": "Torben", "initials": "T"}, {"family": "Hansen", "given": "Tue", "initials": "T"}, {"family": "Hattersley", "given": "Andrew T", "initials": "AT"}, {"family": "Heggie", "given": "Alison J", "initials": "AJ"}, {"family": "Howald", "given": "C\u00e9dric", "initials": "C"}, {"family": "Jones", "given": "Angus G", "initials": "AG"}, {"family": "Kokkola", "given": "Tarja", "initials": "T", "orcid": "0000-0002-3303-3912", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fc389880431a46e49fcbe0eae12908ea.json"}}, {"family": "Laakso", "given": "Markku", "initials": "M"}, {"family": "Mahajan", "given": "Anubha", "initials": "A", "orcid": "0000-0001-5585-3420", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/41b3d44662484e0289f07fa25d045cf4.json"}}, {"family": "Mari", "given": "Andrea", "initials": "A", "orcid": "0000-0002-1436-5591", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3b7dd1ab06074d1188e40713d8807c48.json"}}, {"family": "McDonald", "given": "Timothy J", "initials": "TJ"}, {"family": "McEvoy", "given": "Donna", "initials": "D"}, {"family": "Mourby", "given": "Miranda", "initials": "M"}, {"family": "Musholt", "given": "Petra", "initials": "P"}, {"family": "Nilsson", "given": "Birgitte", "initials": "B"}, {"family": "Pattou", "given": "Fran\u00e7ois", "initials": "F", "orcid": "0000-0001-8388-3766", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0769cc7e166943cb98978c45c12d749a.json"}}, {"family": "Penet", "given": "Deborah", "initials": "D"}, {"family": "Raverdy", "given": "Violeta", "initials": "V"}, {"family": "Ridderstrale", "given": "Martin", "initials": "M"}, {"family": "Romano", "given": "Luciana", "initials": "L"}, {"family": "Rutters", "given": "Femke", "initials": "F"}, {"family": "Sharma", "given": "Sapna", "initials": "S"}, {"family": "Teare", "given": "Harriet", "initials": "H"}, {"family": "T\u2019Hart", "given": "Leen M", "initials": "LM"}, {"family": "Tsirigos", "given": "Kostas", "initials": "K"}, {"family": "Vangipurapu", "given": "Jagadish", "initials": "J"}, {"family": "Vestergaard", "given": "Henrik", "initials": "H"}, {"family": "Brunak", "given": "S\u00f8ren", "initials": "S"}, {"family": "Franks", "given": "Paul W", "initials": "PW"}, {"family": "Frost", "given": "Gary", "initials": "G"}, {"family": "Grallert", "given": "Harald", "initials": "H"}, {"family": "Jablonka", "given": "Bernd", "initials": "B"}, {"family": "McCarthy", "given": "Mark I", "initials": "MI", "orcid": "0000-0002-4393-0510", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/102c7e93640c43c9bbbedd1626adfd7b.json"}}, {"family": "Pavo", "given": "Imre", "initials": "I"}, {"family": "Pedersen", "given": "Oluf", "initials": "O"}, {"family": "Ruetten", "given": "Hartmut", "initials": "H"}, {"family": "Walker", "given": "Mark", "initials": "M"}, {"family": "Adamski", "given": "Jerzy", "initials": "J"}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/022e140799b6466ea123319c3d70c76e.json"}}, {"family": "Pearson", "given": "Ewan R", "initials": "ER", "orcid": "0000-0001-9237-8585", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e27e9e47f1cc4a969268eb5a65b8045b.json"}}, {"family": "Dermitzakis", "given": "Emmanouil T", "initials": "ET", "orcid": "0000-0002-9302-6490", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6683f17defc34cad9389fd7fef36aca4.json"}}], "type": "posted-content", "published": "2021-03-29", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2021.03.26.21254347", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:03:36.179Z", "modified": "2026-08-20T10:03:36.507Z"}]}