{"entity": "researcher", "timestamp": "2026-07-19T06:04:05.406Z", "family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "affiliations": [], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac"}}, "publications": [{"entity": "publication", "iuid": "f16eb3a1f69d495e98898dc2db501ac5", "links": {"self": {"href": "https://publications.scilifelab.se/publication/f16eb3a1f69d495e98898dc2db501ac5.json"}, "display": {"href": "https://publications.scilifelab.se/publication/f16eb3a1f69d495e98898dc2db501ac5"}}, "title": "Cross-Sectional Gene-Smoking Interaction Analysis in Relation to Subclinical Atherosclerosis-Results From the IMPROVE Study.", "authors": [{"family": "Maitusong", "given": "Buamina", "initials": "B"}, {"family": "Laguzzi", "given": "Federica", "initials": "F", "orcid": "0000-0003-3551-1348", "researcher": {"href": "https://publications.scilifelab.se/researcher/7da74e51f7ef486db7516914f9e4a8c5.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}, {"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", "orcid": "0000-0002-9378-8874", "researcher": {"href": "https://publications.scilifelab.se/researcher/46cd876aad8b495d982cf2a3ac7bb6aa.json"}}, {"family": "Humphries", "given": "Steve E", "initials": "SE", "orcid": "0000-0002-8221-6547", "researcher": {"href": "https://publications.scilifelab.se/researcher/7669b620701f4ebd97f91594c9a4989e.json"}}, {"family": "Savonen", "given": "Kai", "initials": "K", "orcid": "0000-0002-6871-8153", "researcher": {"href": "https://publications.scilifelab.se/researcher/19178127ffff42919e26c230ae50ef05.json"}}, {"family": "Kurl", "given": "Sudhir", "initials": "S"}, {"family": "Pirro", "given": "Matteo", "initials": "M", "orcid": "0000-0002-5527-4821", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e4ee91d24cf4784ab09a25c1a766085.json"}}, {"family": "Smit", "given": "Andries J", "initials": "AJ"}, {"family": "Giral", "given": "Philippe", "initials": "P", "orcid": "0000-0002-1863-1711", "researcher": {"href": "https://publications.scilifelab.se/researcher/0f782e7ead4842fabd2aa461dc253a04.json"}}, {"family": "Silveira", "given": "Angela", "initials": "A", "orcid": "0000-0003-2063-4935", "researcher": {"href": "https://publications.scilifelab.se/researcher/6fd1197769804dd48b9de86f11340ef2.json"}}, {"family": "Tremoli", "given": "Elena", "initials": "E", "orcid": "0000-0002-0929-6106", "researcher": {"href": "https://publications.scilifelab.se/researcher/ce500f9d80404d76ac7c68ac3444db28.json"}}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "de Faire", "given": "Ulf", "initials": "U", "orcid": "0000-0002-6000-3698", "researcher": {"href": "https://publications.scilifelab.se/researcher/462b15f7decc4465b09bada73f0a0b7d.json"}}, {"family": "Gigante", "given": "Bruna", "initials": "B", "orcid": "0000-0003-4508-7990", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ac1bdc52e3241ea9eb5645f603229a3.json"}}, {"family": "Leander", "given": "Karin", "initials": "K", "orcid": "0000-0002-1404-9222", "researcher": {"href": "https://publications.scilifelab.se/researcher/d502263c97a744a5a179a16220115db5.json"}}, {"family": "IMPROVE Study group\u2020", "given": "", "initials": ""}], "type": "journal article", "published": "2023-04-06", "journal": {"title": "Circ Genom Precis Med", "issn": "2574-8300", "pages": "e003710", "issn-l": "2574-8300"}, "abstract": "Smoking is associated with carotid intima-media thickness (C-IMT). However, knowledge about how genetics may influence this association is limited. We aimed to perform nonhypothesis driven gene-smoking interaction analyses to identify potential genetic variants, among those included in immune and metabolic platforms, that may modify the effect of smoking on carotid intima-media thickness.\n\nWe used baseline data from 1551 men and 1700 women, aged 55 to 79, included in a European multi-center study. Carotid intima-media thickness maximum, the maximum of values measured at different locations of the carotid tree, was dichotomized with cut point values \u226575, respectively. Genetic data were retrieved through use of the Illumina Cardio-Metabo- and Immuno- Chips. Gene-smoking interactions were evaluated through calculations of Synergy index (S). After adjustments for multiple testing, P values of <2.4\u00d710-7 for S were considered significant. The models were adjusted for age, sex, education, physical activity, type of diet, and population stratification.\n\nOur screening of 207 586 SNPs available for analysis, resulted in the identification of 47 significant gene-smoking synergistic interactions in relation to carotid intima-media thickness maximum. Among the significant SNPs, 28 were in protein coding genes, 2 in noncoding RNA and the remaining 17 in intergenic regions.\n\nThrough nonhypothesis-driven analyses of gene-smoking interactions, several significant results were observed. These may stimulate further research on the role of specific genes in the process that determines the effect of smoking habits on the development of carotid atherosclerosis.", "doi": "10.1161/CIRCGEN.122.003710", "pmid": "37021583", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service"}, "xrefs": [], "notes": [], "created": "2023-04-06T13:49:58.020Z", "modified": "2023-04-06T13:49:58.510Z"}, {"entity": "publication", "iuid": "2c302588fb0a42b3be111c75c663961d", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2c302588fb0a42b3be111c75c663961d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2c302588fb0a42b3be111c75c663961d"}}, "title": "LRIG proteins regulate lipid metabolism via BMP signaling and affect the risk of type 2 diabetes.", "authors": [{"family": "Herdenberg", "given": "Carl", "initials": "C"}, {"family": "Mutie", "given": "Pascal M", "initials": "PM"}, {"family": "Billing", "given": "Ola", "initials": "O", "orcid": "0000-0001-5824-6263", "researcher": {"href": "https://publications.scilifelab.se/researcher/0c9507722d964ce9a32a6cd3c6d80b2c.json"}}, {"family": "Abdullah", "given": "Ahmad", "initials": "A", "orcid": "0000-0003-3502-5948", "researcher": {"href": "https://publications.scilifelab.se/researcher/dca27d1581fc4760b2b8a34f6f53e6f6.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}, {"family": "Dahlman", "given": "Ingrid", "initials": "I"}, {"family": "Tuck", "given": "Simon", "initials": "S"}, {"family": "Holmlund", "given": "Camilla", "initials": "C"}, {"family": "Arner", "given": "Peter", "initials": "P", "orcid": "0000-0002-6208-6220", "researcher": {"href": "https://publications.scilifelab.se/researcher/95b10e9b283e4806a8d97755a43e4cec.json"}}, {"family": "Henriksson", "given": "Roger", "initials": "R"}, {"family": "Franks", "given": "Paul W", "initials": "PW", "orcid": "0000-0002-0520-7604", "researcher": {"href": "https://publications.scilifelab.se/researcher/1ebbf40c0f7e49dd8c75a2b6cbf27276.json"}}, {"family": "Hedman", "given": "H\u00e5kan", "initials": "H", "orcid": "0000-0001-6891-6996", "researcher": {"href": "https://publications.scilifelab.se/researcher/6b1b2d57a55e415aa17acbd0318a019e.json"}}], "type": "journal article", "published": "2021-01-19", "journal": {"title": "Commun Biol", "issn": "2399-3642", "volume": "4", "issue": "1", "pages": "90", "issn-l": "2399-3642"}, "abstract": "Leucine-rich repeats and immunoglobulin-like domains (LRIG) proteins have been implicated as regulators of growth factor signaling; however, the possible redundancy among mammalian LRIG1, LRIG2, and LRIG3 has hindered detailed elucidation of their physiological functions. Here, we show that Lrig-null mouse embryonic fibroblasts (MEFs) are deficient in adipogenesis and bone morphogenetic protein (BMP) signaling. In contrast, transforming growth factor-beta (TGF-\u03b2) and receptor tyrosine kinase (RTK) signaling appeared unaltered in Lrig-null cells. The BMP signaling defect was rescued by ectopic expression of LRIG1 or LRIG3 but not by expression of LRIG2. Caenorhabditis elegans with mutant LRIG/sma-10 variants also exhibited a lipid storage defect. Human LRIG1 variants were strongly associated with increased body mass index (BMI) yet protected against type 2 diabetes; these effects were likely mediated by altered adipocyte morphology. These results demonstrate that LRIG proteins function as evolutionarily conserved regulators of lipid metabolism and BMP signaling and have implications for human disease.", "doi": "10.1038/s42003-020-01613-w", "pmid": "33469151", "labels": {"Swedish Metabolomics Centre": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s42003-020-01613-w"}, {"db": "pmc", "key": "PMC7815736"}], "notes": [], "created": "2021-12-09T20:01:11.461Z", "modified": "2025-10-17T13:03:16.382Z"}, {"entity": "publication", "iuid": "48f74c2afc0b4af8befb22016e4d7b0c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/48f74c2afc0b4af8befb22016e4d7b0c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/48f74c2afc0b4af8befb22016e4d7b0c"}}, "title": "Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.", "authors": [{"family": "Lagou", "given": "Vasiliki", "initials": "V"}, {"family": "M\u00e4gi", "given": "Reedik", "initials": "R"}, {"family": "Hottenga", "given": "Jouke- Jan", "initials": "JJ", "orcid": "0000-0002-5668-2368", "researcher": {"href": "https://publications.scilifelab.se/researcher/75553b594b1f4255833de730f7f7d170.json"}}, {"family": "Grallert", "given": "Harald", "initials": "H"}, {"family": "Perry", "given": "John R B", "initials": "JRB"}, {"family": "Bouatia-Naji", "given": "Nabila", "initials": "N", "orcid": "0000-0001-5424-2134", "researcher": {"href": "https://publications.scilifelab.se/researcher/a4f7af2cb2b7464abddf05692a292fc3.json"}}, {"family": "Marullo", "given": "Letizia", "initials": "L"}, {"family": "Rybin", "given": "Denis", "initials": "D"}, {"family": "Jansen", "given": "Rick", "initials": "R", "orcid": "0000-0002-3333-6737", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcd392c9b9784ebe8c8730e05463377a.json"}}, {"family": "Min", "given": "Josine L", "initials": "JL", "orcid": "0000-0003-4456-9824", "researcher": {"href": "https://publications.scilifelab.se/researcher/5896cbc0cb8d427a954b194839adda52.json"}}, {"family": "Dimas", "given": "Antigone S", "initials": "AS"}, {"family": "Ulrich", "given": "Anna", "initials": "A"}, {"family": "Zudina", "given": "Liudmila", "initials": "L"}, {"family": "G\u00e5din", "given": "Jesper R", "initials": "JR"}, {"family": "Jiang", "given": "Longda", "initials": "L"}, {"family": "Faggian", "given": "Alessia", "initials": "A", "orcid": "0000-0002-3799-9722", "researcher": {"href": "https://publications.scilifelab.se/researcher/e4f320f96474406c82fef88f1f78dd23.json"}}, {"family": "Bonnefond", "given": "Am\u00e9lie", "initials": "A", "orcid": "0000-0001-9976-3005", "researcher": {"href": "https://publications.scilifelab.se/researcher/ea1984308c1544ba969d4df73971de69.json"}}, {"family": "Fadista", "given": "Joao", "initials": "J"}, {"family": "Stathopoulou", "given": "Maria G", "initials": "MG"}, {"family": "Isaacs", "given": "Aaron", "initials": "A", "orcid": "0000-0001-5037-4834", "researcher": {"href": "https://publications.scilifelab.se/researcher/38ebe49e62404f48bcb979d9671883e7.json"}}, {"family": "Willems", "given": "Sara M", "initials": "SM", "orcid": "0000-0002-6803-3007", "researcher": {"href": "https://publications.scilifelab.se/researcher/307c8a9b3ab54ab586c7b000c110e76b.json"}}, {"family": "Navarro", "given": "Pau", "initials": "P", "orcid": "0000-0001-5576-8584", "researcher": {"href": "https://publications.scilifelab.se/researcher/9420946aedec4a7b8925cc05c0a9abeb.json"}}, {"family": "Tanaka", "given": "Toshiko", "initials": "T"}, {"family": "Jackson", "given": "Anne U", "initials": "AU", "orcid": "0000-0002-9672-2547", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8230afabb0b4dcda8dc58ead349aea0.json"}}, {"family": "Montasser", "given": "May E", "initials": "ME"}, {"family": "O'Connell", "given": "Jeff R", "initials": "JR"}, {"family": "Bielak", "given": "Lawrence F", "initials": "LF", "orcid": "0000-0002-3443-8030", "researcher": {"href": "https://publications.scilifelab.se/researcher/d1934e3543f14cbe83b95d1c1c3e24c7.json"}}, {"family": "Webster", "given": "Rebecca J", "initials": "RJ"}, {"family": "Saxena", "given": "Richa", "initials": "R", "orcid": "0000-0003-2233-1065", "researcher": {"href": "https://publications.scilifelab.se/researcher/a974c0165c8c4e79b5773f98dcd2ce0e.json"}}, {"family": "Stafford", "given": "Jeanette M", "initials": "JM"}, {"family": "Pourcain", "given": "Beate St", "initials": "BS"}, {"family": "Timpson", "given": "Nicholas J", "initials": "NJ"}, {"family": "Salo", "given": "Perttu", "initials": "P"}, {"family": "Shin", "given": "So-Youn", "initials": "SY"}, {"family": "Amin", "given": "Najaf", "initials": "N"}, {"family": "Smith", "given": "Albert V", "initials": "AV", "orcid": "0000-0003-1942-5845", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b28739aa7d746718d670363d7c18a40.json"}}, {"family": "Li", "given": "Guo", "initials": "G"}, {"family": "Verweij", "given": "Niek", "initials": "N", "orcid": "0000-0002-4303-7685", "researcher": {"href": "https://publications.scilifelab.se/researcher/7306319d42a640a483b937de588a17a4.json"}}, {"family": "Goel", "given": "Anuj", "initials": "A", "orcid": "0000-0003-2307-4021", "researcher": {"href": "https://publications.scilifelab.se/researcher/0f16d9d2e2164938a12b027326c21316.json"}}, {"family": "Ford", "given": "Ian", "initials": "I"}, {"family": "Johnson", "given": "Paul C D", "initials": "PCD", "orcid": "0000-0001-6663-7520", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d7b476aaf134a44862c87b7a6e6ee27.json"}}, {"family": "Johnson", "given": "Toby", "initials": "T"}, {"family": "Kapur", "given": "Karen", "initials": "K"}, {"family": "Thorleifsson", "given": "Gudmar", "initials": "G"}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}, {"family": "Rasmussen-Torvik", "given": "Laura J", "initials": "LJ"}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T"}, {"family": "Mihailov", "given": "Evelin", "initials": "E"}, {"family": "Fall", "given": "Tove", "initials": "T", "orcid": "0000-0003-2071-5866", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ed3f066719f43b291743a8bdaf3d2a0.json"}}, {"family": "Fraser", "given": "Ross M", "initials": "RM", "orcid": "0000-0003-0488-2592", "researcher": {"href": "https://publications.scilifelab.se/researcher/cf6c3a799fdb4fc18d45ae47cfaa1daa.json"}}, {"family": "Mahajan", "given": "Anubha", "initials": "A"}, {"family": "Kanoni", "given": "Stavroula", "initials": "S", "orcid": "0000-0002-1691-9615", "researcher": {"href": "https://publications.scilifelab.se/researcher/95f9c5fce1fe44719ef772eda9a4f5e4.json"}}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V", "orcid": "0000-0003-3423-2021", "researcher": {"href": "https://publications.scilifelab.se/researcher/7c95879213664e00b66aeee2e8ece975.json"}}, {"family": "Kleber", "given": "Marcus E", "initials": "ME", "orcid": "0000-0003-0663-7275", "researcher": {"href": "https://publications.scilifelab.se/researcher/a51175112cfb4721b8c9fbfdc71c4307.json"}}, {"family": "Silbernagel", "given": "G\u00fcnther", "initials": "G"}, {"family": "Meyer", "given": "Julia", "initials": "J"}, {"family": "M\u00fcller-Nurasyid", "given": "Martina", "initials": "M", "orcid": "0000-0003-3793-5910", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d21299bb41343f88142255e64a9da57.json"}}, {"family": "Ganna", "given": "Andrea", "initials": "A"}, {"family": "Sarin", "given": "Antti-Pekka", "initials": "AP"}, {"family": "Yengo", "given": "Loic", "initials": "L"}, {"family": "Shungin", "given": "Dmitry", "initials": "D"}, {"family": "Luan", "given": "Jian'an", "initials": "J", "orcid": "0000-0003-3137-6337", "researcher": {"href": "https://publications.scilifelab.se/researcher/7f0ea409f1a2462dbb1b266db8fcc33a.json"}}, {"family": "Horikoshi", "given": "Momoko", "initials": "M"}, {"family": "An", "given": "Ping", "initials": "P"}, {"family": "Sanna", "given": "Serena", "initials": "S", "orcid": "0000-0002-3768-1749", "researcher": {"href": "https://publications.scilifelab.se/researcher/7ecc352ae9264e3e9aaf58d2b1455ed0.json"}}, {"family": "Boettcher", "given": "Yvonne", "initials": "Y"}, {"family": "Rayner", "given": "N William", "initials": "NW"}, {"family": "Nolte", "given": "Ilja M", "initials": "IM", "orcid": "0000-0001-5047-4077", "researcher": {"href": "https://publications.scilifelab.se/researcher/abd76becaa8a4df284103c3e20261f10.json"}}, {"family": "Zemunik", "given": "Tatijana", "initials": "T", "orcid": "0000-0001-8120-2891", "researcher": {"href": "https://publications.scilifelab.se/researcher/34677eda6e4444f6a7dced7828b43137.json"}}, {"family": "Iperen", "given": "Erik van", "initials": "EV"}, {"family": "Kovacs", "given": "Peter", "initials": "P", "orcid": "0000-0002-0290-5423", "researcher": {"href": "https://publications.scilifelab.se/researcher/d37e874ec6804b20a1264a86c9b62eab.json"}}, {"family": "Hastie", "given": "Nicholas D", "initials": "ND"}, {"family": "Wild", "given": "Sarah H", "initials": "SH", "orcid": "0000-0001-7824-2569", "researcher": {"href": "https://publications.scilifelab.se/researcher/2522fd974a014968b679e172c7ca2de5.json"}}, {"family": "McLachlan", "given": "Stela", "initials": "S", "orcid": "0000-0003-0480-6143", "researcher": {"href": "https://publications.scilifelab.se/researcher/1034fdead8f14709b9b7281c5a6cb20e.json"}}, {"family": "Campbell", "given": "Susan", "initials": "S"}, {"family": "Polasek", "given": "Ozren", "initials": "O"}, {"family": "Carlson", "given": "Olga", "initials": "O"}, {"family": "Egan", "given": "Josephine", "initials": "J", "orcid": "0000-0002-8945-0053", "researcher": {"href": 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"https://publications.scilifelab.se/researcher/a7d00b649d284101b0501e2024fb651a.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications.scilifelab.se/researcher/679465193fba4887a68e2aec34ccfd8e.json"}}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "Nicholson", "given": "George", "initials": "G"}, {"family": "Karpe", "given": "Fredrik", "initials": "F"}, {"family": "Dermitzakis", "given": "Emmanouil T", "initials": "ET", "orcid": "0000-0002-9302-6490", "researcher": {"href": "https://publications.scilifelab.se/researcher/3560d19929e94af1bb858a54e29a10cc.json"}}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM", "orcid": "0000-0002-4903-9374", "researcher": {"href": "https://publications.scilifelab.se/researcher/822d2f2a99814a7498f19976ed6381ef.json"}}, {"family": "McCarthy", "given": "Mark I", "initials": "MI"}, {"family": "Froguel", "given": "Philippe", "initials": "P", "orcid": "0000-0003-2972-0784", "researcher": {"href": "https://publications.scilifelab.se/researcher/34edc6a0f1b343bb8a2abd439c2ee77f.json"}}, {"family": "Kaakinen", "given": "Marika A", "initials": "MA", "orcid": "0000-0002-9228-0462", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e9f40717fdd4ce29b148bc569134451.json"}}, {"family": "Lyssenko", "given": "Valeriya", "initials": "V"}, {"family": "Watanabe", "given": "Richard M", "initials": "RM", "orcid": "0000-0003-1015-0531", "researcher": {"href": "https://publications.scilifelab.se/researcher/a4336f8845ac40dfb77ef0ea1a97bbd6.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E", "orcid": "0000-0003-2256-6972", "researcher": {"href": "https://publications.scilifelab.se/researcher/689bc741ea6547d18de7080c84d0193e.json"}}, {"family": "Florez", "given": "Jose C", "initials": "JC"}, {"family": "Dupuis", "given": "Jos\u00e9e", "initials": "J", "orcid": "0000-0003-2871-3603", "researcher": {"href": "https://publications.scilifelab.se/researcher/c9edfafda7364890866115f5343a9583.json"}}, {"family": "Barroso", "given": "In\u00eas", "initials": "I", "orcid": "0000-0001-5800-4520", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2dc6be9aa194bdc9a161e551d5e6747.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Prokopenko", "given": "Inga", "initials": "I"}, {"family": "Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC)", "given": "", "initials": ""}], "type": "journal article", "published": "2021-01-05", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "12", "issue": "1", "pages": "24", "issn-l": "2041-1723"}, "abstract": "Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.", "doi": "10.1038/s41467-020-19366-9", "pmid": "33402679", "labels": {"NGI Stockholm (Genomics Applications)": "Service", "National Genomics Infrastructure": null, "NGI Stockholm (Genomics Production)": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-020-19366-9"}, {"db": "pmc", "key": "PMC7785747"}], "notes": [], "created": "2021-01-08T16:30:26.062Z", "modified": "2021-11-10T12:27:48.827Z"}, {"entity": "publication", "iuid": "06bdda0e02974b29a11b5fc22fa91b3b", "links": {"self": {"href": "https://publications.scilifelab.se/publication/06bdda0e02974b29a11b5fc22fa91b3b.json"}, "display": {"href": "https://publications.scilifelab.se/publication/06bdda0e02974b29a11b5fc22fa91b3b"}}, "title": "Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus.", "authors": [{"family": "van Zuydam", "given": "Natalie R", "initials": "NR", "orcid": "0000-0002-9809-1398", "researcher": {"href": "https://publications.scilifelab.se/researcher/defa68cc40734fcdaffd7ba0aaad72b8.json"}}, {"family": "Ladenvall", "given": "Claes", "initials": "C", "orcid": "0000-0002-7501-6598", "researcher": {"href": "https://publications.scilifelab.se/researcher/4c5c362dc308476195eb55d2e588ba60.json"}}, {"family": "Voight", "given": "Benjamin F", "initials": "BF", "orcid": "0000-0002-6205-9994", "researcher": {"href": "https://publications.scilifelab.se/researcher/d3d9e9de96ee4983ba97efc14eb3d79b.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}, {"family": "Fernandez-Tajes", "given": "Juan", "initials": "J", "orcid": "0000-0003-1515-2421", "researcher": {"href": "https://publications.scilifelab.se/researcher/dad51251fc8d42f793e4c991c4102667.json"}}, {"family": "Rayner", "given": "N William", "initials": "NW", "orcid": "0000-0003-0510-4792", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e3c7e5bd20348629ba3fe232fc2bcd2.json"}}, {"family": "Robertson", "given": "Neil R", "initials": "NR"}, {"family": "Mahajan", "given": "Anubha", "initials": "A"}, {"family": "Vlachopoulou", "given": "Efthymia", "initials": "E"}, {"family": "Goel", "given": "Anuj", "initials": "A", "orcid": "0000-0003-2307-4021", "researcher": {"href": "https://publications.scilifelab.se/researcher/0f16d9d2e2164938a12b027326c21316.json"}}, {"family": "Kleber", "given": "Marcus E", "initials": "ME"}, {"family": "Nelson", "given": "Christopher P", "initials": "CP"}, {"family": "Kwee", "given": "Lydia Coulter", "initials": "LC", "orcid": "0000-0002-6997-8571", "researcher": {"href": "https://publications.scilifelab.se/researcher/aa16042af5d84f11927203fc564e8fcb.json"}}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T", "orcid": "0000-0003-1982-6569", "researcher": {"href": "https://publications.scilifelab.se/researcher/d72619c1e29d44e8b8454902d2af8d9e.json"}}, {"family": "Mihailov", "given": "Evelin", "initials": "E"}, {"family": "M\u00e4gi", "given": "Reedik", "initials": "R", "orcid": "0000-0002-2964-6011", "researcher": {"href": "https://publications.scilifelab.se/researcher/61f337c26b414b8fa30bf0fdb77368a1.json"}}, {"family": "Milani", "given": "Lili", "initials": "L", "orcid": "0000-0002-5323-3102", "researcher": {"href": "https://publications.scilifelab.se/researcher/dec8d00c4b9d43458c5c895b164695d5.json"}}, {"family": "Fischer", "given": "Krista", "initials": "K", "orcid": "0000-0002-3521-0599", "researcher": {"href": "https://publications.scilifelab.se/researcher/bcd45c97a9c2450c9c88adbd83d36b24.json"}}, {"family": "Kanoni", "given": "Stavroula", "initials": "S", "orcid": "0000-0002-1691-9615", "researcher": {"href": "https://publications.scilifelab.se/researcher/95f9c5fce1fe44719ef772eda9a4f5e4.json"}}, {"family": "Kumar", "given": "Jitender", "initials": "J"}, {"family": "Song", "given": "Ci", "initials": "C"}, {"family": "Hartiala", "given": "Jaana A", "initials": "JA", "orcid": "0000-0003-4883-9318", "researcher": {"href": "https://publications.scilifelab.se/researcher/f39400df71774cf8ae408eccbe34d981.json"}}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL", "orcid": "0000-0001-8057-3543", "researcher": {"href": "https://publications.scilifelab.se/researcher/cbee4e5f6d10460cac50f00ee92d5bdf.json"}}, {"family": "Perola", "given": "Markus", "initials": "M", "orcid": "0000-0003-4842-1667", "researcher": {"href": "https://publications.scilifelab.se/researcher/ef3cdf94ecb543f1a449a7704f8be7b2.json"}}, {"family": "Gieger", "given": "Christian", "initials": "C"}, {"family": "Peters", "given": "Annette", "initials": "A", "orcid": "0000-0001-6645-0985", "researcher": {"href": "https://publications.scilifelab.se/researcher/05465e52a0f6412e81752d2249af30de.json"}}, {"family": "Qu", "given": "Liming", "initials": "L"}, {"family": "Willems", "given": "Sara M", "initials": "SM", "orcid": "0000-0002-6803-3007", "researcher": {"href": "https://publications.scilifelab.se/researcher/307c8a9b3ab54ab586c7b000c110e76b.json"}}, {"family": "Doney", "given": "Alex S F", "initials": "ASF"}, {"family": "Morris", "given": "Andrew D", "initials": "AD"}, {"family": "Zheng", "given": "Yan", "initials": "Y", "orcid": "0000-0003-1129-3147", "researcher": {"href": "https://publications.scilifelab.se/researcher/c0baf9bc398345709fcfe2f635c6d443.json"}}, {"family": "Sesti", "given": "Giorgio", "initials": "G", "orcid": "0000-0002-1618-7688", "researcher": {"href": "https://publications.scilifelab.se/researcher/3c564dce3a584837a595ad7c9630092d.json"}}, {"family": "Hu", "given": "Frank B", "initials": "FB", "orcid": "0000-0002-8233-6274", "researcher": {"href": "https://publications.scilifelab.se/researcher/8cdf552612da400a9b3d72aaed260aa9.json"}}, {"family": "Qi", "given": "Lu", "initials": "L", "orcid": "0000-0002-8041-7791", "researcher": {"href": "https://publications.scilifelab.se/researcher/14b5a04081604f12859bb18b5e7c0f38.json"}}, {"family": "Laakso", "given": "Markku", "initials": "M", "orcid": "0000-0002-3394-7749", "researcher": {"href": "https://publications.scilifelab.se/researcher/13d8518be25141a296d7f2df5cccb4ee.json"}}, {"family": "Thorsteinsdottir", "given": "Unnur", "initials": "U"}, {"family": "Grallert", "given": "Harald", "initials": "H"}, {"family": "van Duijn", "given": "Cornelia", "initials": "C", "orcid": "0000-0002-2374-9204", "researcher": {"href": "https://publications.scilifelab.se/researcher/354ccf94e95f40da96e61c89a0a60adb.json"}}, {"family": "Reilly", "given": "Muredach P", "initials": "MP", "orcid": "0000-0002-3035-9386", "researcher": {"href": "https://publications.scilifelab.se/researcher/de249cb6c3774f04985a39ca9828b97e.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Deloukas", "given": "Panos", "initials": "P", "orcid": "0000-0001-9251-070X", "researcher": {"href": "https://publications.scilifelab.se/researcher/eb59dbd2f2204d41b801c41188611a9e.json"}}, {"family": "Kathiresan", "given": "Sek", "initials": "S", "orcid": "0000-0002-3711-7101", "researcher": {"href": "https://publications.scilifelab.se/researcher/58fd968293e94da49c506c743a74222e.json"}}, {"family": "Metspalu", "given": "Andres", "initials": "A", "orcid": "0000-0002-3718-796X", "researcher": {"href": "https://publications.scilifelab.se/researcher/fd553a77a5a54258b4a4701f0e70a3f8.json"}}, {"family": "Shah", "given": "Svati H", "initials": "SH"}, {"family": "Sinisalo", "given": "Juha", "initials": "J", "orcid": "0000-0002-0169-5137", "researcher": {"href": "https://publications.scilifelab.se/researcher/6fde24cdfda24aed83d888da0d9b6811.json"}}, {"family": "Salomaa", "given": "Veikko", "initials": "V", "orcid": "0000-0001-7563-5324", "researcher": {"href": "https://publications.scilifelab.se/researcher/f2396c578c254e39b66538c3033c9ce9.json"}}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "Samani", "given": "Nilesh J", "initials": "NJ", "orcid": "0000-0002-3286-8133", "researcher": {"href": "https://publications.scilifelab.se/researcher/2227aaf274e8424f8408318f336f3bf1.json"}}, {"family": "M\u00e4rz", "given": "Winfried", "initials": "W"}, {"family": "Hazen", "given": "Stanley L", "initials": "SL", "orcid": "0000-0001-7124-6639", "researcher": {"href": "https://publications.scilifelab.se/researcher/abce9cd916c94667a73bc348ede57a01.json"}}, {"family": "Watkins", "given": "Hugh", "initials": "H", "orcid": "0000-0002-5287-9016", "researcher": {"href": "https://publications.scilifelab.se/researcher/7ea10989397546f9a027f88bd491bb8b.json"}}, {"family": "Saleheen", "given": "Danish", "initials": "D"}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Colhoun", "given": "Helen M", "initials": "HM", "orcid": "0000-0002-8345-3288", "researcher": {"href": "https://publications.scilifelab.se/researcher/e79cb60e3d734232b7cfad20c4f1c13e.json"}}, {"family": "Groop", "given": "Leif", "initials": "L"}, {"family": "McCarthy", "given": "Mark I", "initials": "MI", "orcid": "0000-0002-4393-0510", "researcher": {"href": "https://publications.scilifelab.se/researcher/5e44f4b1ca3a49cb8f83450ef9482e91.json"}}, {"family": "Palmer", "given": "Colin N A", "initials": "CNA", "orcid": "0000-0002-6415-6560", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a0f019dcb7a453a84480953a5514dd5.json"}}, {"family": "SUMMIT Steering Committee; CARDIOGRAMplusC4D Steering Committee*", "given": "", "initials": ""}], "type": "journal article", "published": "2020-12-00", "journal": {"title": "Circ Genom Precis Med", "issn": "2574-8300", "issn-l": "2574-8300", "volume": "13", "issue": "6", "pages": "e002769"}, "abstract": "Coronary artery disease (CAD) is accelerated in subjects with type 2 diabetes mellitus (T2D).\r\n\r\nTo test whether this reflects differential genetic influences on CAD risk in subjects with T2D, we performed a systematic assessment of genetic overlap between CAD and T2D in 66 643 subjects (27 708 with CAD and 24 259 with T2D). Variants showing apparent association with CAD in stratified analyses or evidence of interaction were evaluated in a further 117 787 subjects (16 694 with CAD and 11 537 with T2D).\r\n\r\nNone of the previously characterized CAD loci was found to have specific effects on CAD in T2D individuals, and a genome-wide interaction analysis found no new variants for CAD that could be considered T2D specific. When we considered the overall genetic correlations between CAD and its risk factors, we found no substantial differences in these relationships by T2D background.\r\n\r\nThis study found no evidence that the genetic architecture of CAD differs in those with T2D compared with those without T2D.", "doi": "10.1161/CIRCGEN.119.002769", "pmid": "33321069", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC7748049"}], "notes": [], "created": "2021-01-07T17:01:51.462Z", "modified": "2021-12-07T13:47:48.005Z"}, {"entity": "publication", "iuid": "98c56bf4a6f549c0895f3cef98a9f04d", "links": {"self": {"href": "https://publications.scilifelab.se/publication/98c56bf4a6f549c0895f3cef98a9f04d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/98c56bf4a6f549c0895f3cef98a9f04d"}}, "title": "Genetic Variants Associated with Non-Alcoholic Fatty Liver Disease Do Not Associate with Measures of Sub-Clinical Atherosclerosis: Results from the IMPROVE Study.", "authors": [{"family": "Castaldo", "given": "Luigi", "initials": "L", "orcid": "0000-0001-6883-9396", "researcher": {"href": "https://publications.scilifelab.se/researcher/2e444841bc62402e82952cc4d24be1b9.json"}}, {"family": "Laguzzi", "given": "Federica", "initials": "F"}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}, {"family": "Baldassarre", "given": "Damiano", "initials": "D"}, {"family": "Veglia", "given": "Fabrizio", "initials": "F", "orcid": "0000-0002-9378-8874", "researcher": {"href": "https://publications.scilifelab.se/researcher/46cd876aad8b495d982cf2a3ac7bb6aa.json"}}, {"family": "Vigo", "given": "Lorenzo", "initials": "L"}, {"family": "Tremoli", "given": "Elena", "initials": "E"}, {"family": "de Faire", "given": "Ulf", "initials": "U"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Smit", "given": "Andries J", "initials": "AJ"}, {"family": "Aubrecht", "given": "Jiri", "initials": "J"}, {"family": "Leander", "given": "Karin", "initials": "K"}, {"family": "Pirro", "given": "Matteo", "initials": "M"}, {"family": "Giral", "given": "Philippe", "initials": "P"}, {"family": "Ritieni", "given": "Alberto", "initials": "A", "orcid": "0000-0003-0314-8839", "researcher": {"href": "https://publications.scilifelab.se/researcher/920e6797a9ac4ea088cd481b11e85a7f.json"}}, {"family": "Di Minno", "given": "Giovanni", "initials": "G"}, {"family": "M\u00e4larstig", "given": "Anders", "initials": "A", "orcid": "0000-0003-2608-1358", "researcher": {"href": "https://publications.scilifelab.se/researcher/e70c845d32264b448e0b4631b826be6d.json"}}, {"family": "Gigante", "given": "Bruna", "initials": "B"}], "type": "journal article", "published": "2020-10-22", "journal": {"title": "Genes", "issn": "2073-4425", "volume": "11", "issue": "11", "pages": "1243", "issn-l": "2073-4425"}, "abstract": "Non-alcoholic fatty liver disease (NAFLD) and atherosclerosis-related cardiovascular diseases (CVD) share common metabolic pathways. We explored the association between three NAFLD-associated single nucleotide polymorphisms (SNPs) rs738409, rs10401969, and rs1260326 with sub-clinical atherosclerosis estimated by the carotid intima-media thickness (c-IMT) and the inter-adventitia common carotid artery diameter (ICCAD) in patients free from clinically overt NAFLD and CVD. The study population is the IMPROVE, a multicenter European study (n = 3711). C-IMT measures and ICCAD were recorded using a standardized protocol. Linear regression with an additive genetic model was used to test for association of the three SNPs with c-IMT and ICCAD. In secondary analyses, the association of the three SNPs with c-IMT and ICCAD was tested after stratification by alanine aminotransferase levels (ALT). No associations were found between rs738409, rs1260326, rs10401969, and c-IMT or ICCAD. Rs738409-G and rs10401969-C were associated with ALT levels (p < 0.001). In patients with ALT levels above 28 U/L (highest quartile), we observed an association between rs10401969-C and c-IMT measures of c-IMTmax and c-IMTmean-max (p = 0.018 and 0.021, respectively). In conclusion, NAFLD-associated SNPs do not associate with sub-clinical atherosclerosis measures. However, our results suggest a possible mediating function of impaired liver function on atherosclerosis development.", "doi": "10.3390/genes11111243", "pmid": "33105679", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "genes11111243"}, {"db": "pmc", "key": "PMC7690395"}], "notes": [], "created": "2020-11-05T14:07:51.289Z", "modified": "2021-11-10T12:46:17.904Z"}, {"entity": "publication", "iuid": "2a0ff5d5278f4f43a312d4a527ebc89f", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2a0ff5d5278f4f43a312d4a527ebc89f.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2a0ff5d5278f4f43a312d4a527ebc89f"}}, "title": "Analysis of the genetic variants associated with circulating levels of sgp130. Results from the IMPROVE study.", "authors": [{"family": "Bonomi", "given": "Alice", "initials": "A"}, {"family": "Veglia", "given": "Fabrizio", "initials": "F"}, {"family": "Baldassarre", "given": "Damiano", "initials": "D"}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}, {"family": "Golabkesh", "given": "Zahra", "initials": "Z"}, {"family": "Sennblad", "given": "Bengt", "initials": "B", "orcid": "0000-0002-4360-8003", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c991150beec46ba8886379193d6037b.json"}}, {"family": "Leander", "given": "Karin", "initials": "K"}, {"family": "Smit", "given": "Andries J", "initials": "AJ"}, {"family": "Giral", "given": "Philippe", "initials": "P"}, {"family": "Humphries", "given": "Steve E", "initials": "SE"}, {"family": "Tremoli", "given": "Elena", "initials": "E"}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "de Faire", "given": "Ulf", "initials": "U"}, {"family": "Gigante", "given": "Bruna", "initials": "B", "orcid": "0000-0003-4508-7990", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ac1bdc52e3241ea9eb5645f603229a3.json"}}, {"family": " on behalf of the IMPROVE study group", "given": "", "initials": ""}], "type": "journal article", "published": "2020-02-00", "journal": {"volume": "21", "issn": "1476-5470", "issue": "2", "title": "Genes Immun.", "pages": "100-108", "issn-l": "1466-4879"}, "abstract": "The genes regulating circulating levels of soluble gp130 (sgp130), the antagonist of the inflammatory response in atherosclerosis driven by interleukin 6, are largely unknown. Aims of the present study were to identify genetic loci associated with circulating sgp130 and to explore the potential association between variants associated with sgp130 and markers of subclinical atherosclerosis. The study is based on IMPROVE (n = 3703), a cardiovascular multicentre study designed to investigate the determinants of carotid intima media thickness, a measure of subclinical atherosclerosis. Genomic DNA was genotyped by the CardioMetaboChip and ImmunoChip. About 360,842 SNPs were tested for association with log-transformed sgp130, using linear regression adjusted for age, gender, and population stratification using PLINK v1.07. A p value of 1 \u00d7 10-5 was chosen as threshold for significance value. In an exploratory analysis, SNPs associated with sgp130 were tested for association with c-IMT measures. We identified two SNPs significantly associated with sgp130 levels and 24 showing suggestive association with sgp130 levels. One SNP (rs17688225) on chromosome 14 was positively associated with sgp130 serum levels (\u03b2 = 0.03 SE = 0.007, p = 4.77 \u00d7 10-5) and inversely associated with c-IMT (c-IMTmean-max \u03b2 = -0.001 SE = 0.005, p = 0.0342). Our data indicate that multiple loci regulate sgp130 levels and suggest a possible common pathway between sgp130 and c-IMT measures.", "doi": "10.1038/s41435-019-0090-z", "pmid": "31932740", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41435-019-0090-z"}, {"db": "pmc", "key": "PMC7182533"}], "notes": [], "created": "2020-01-17T08:12:24.951Z", "modified": "2021-11-10T12:54:53.393Z"}, {"entity": "publication", "iuid": "89c87476555544e39ef6bf6717603f84", "links": {"self": {"href": "https://publications.scilifelab.se/publication/89c87476555544e39ef6bf6717603f84.json"}, "display": {"href": "https://publications.scilifelab.se/publication/89c87476555544e39ef6bf6717603f84"}}, "title": "Associations of autozygosity with a broad range of human phenotypes.", "authors": [{"family": "Clark", "given": "David W", "initials": "DW", "orcid": "0000-0002-1025-9185", "researcher": {"href": 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"given": "Leif", "initials": "L", "orcid": "0000-0002-0187-3263", "researcher": {"href": "https://publications.scilifelab.se/researcher/8e1c35ae04cd4e9e9525fbc844d15e14.json"}}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V", "orcid": "0000-0001-5696-0084", "researcher": {"href": "https://publications.scilifelab.se/researcher/d18327939c1541acba054b2340ac174f.json"}}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Hakonarson", "given": "Hakon", "initials": "H"}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "van der Harst", "given": "Pim", "initials": "P", "orcid": "0000-0002-2713-686X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a710eb0e12344e8fb5083599c95a1b2e.json"}}, {"family": "Heng", "given": "Chew-Kiat", "initials": "CK", "orcid": "0000-0002-7309-9473", "researcher": {"href": "https://publications.scilifelab.se/researcher/a4e206bc73574cc1bcb4a9eb6c678d64.json"}}, {"family": "Hicks", "given": 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"https://publications.scilifelab.se/researcher/1b445e5935f74fd6a71b2e92a9dac176.json"}}, {"family": "M\u00e4rz", "given": "Winfried", "initials": "W"}, {"family": "Matullo", "given": "Giuseppe", "initials": "G"}, {"family": "McCarthy", "given": "Mark I", "initials": "MI"}, {"family": "Medland", "given": "Sarah E", "initials": "SE", "orcid": "0000-0003-1382-380X", "researcher": {"href": "https://publications.scilifelab.se/researcher/da1f0230a912425c9237830be85aa642.json"}}, {"family": "Merriman", "given": "Tony R", "initials": "TR", "orcid": "0000-0003-0844-8726", "researcher": {"href": "https://publications.scilifelab.se/researcher/a1b1c659bf944c53905afdc92fe370c2.json"}}, {"family": "Metspalu", "given": "Andres", "initials": "A", "orcid": "0000-0002-3718-796X", "researcher": {"href": "https://publications.scilifelab.se/researcher/fd553a77a5a54258b4a4701f0e70a3f8.json"}}, {"family": "Meyer", "given": "Brian F", "initials": "BF"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL", "orcid": "0000-0001-6721-153X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7c11d7ab911243edb9e2696efd95ecd4.json"}}, {"family": "Montgomery", "given": "Grant W", "initials": "GW", "orcid": "0000-0002-4140-8139", "researcher": {"href": "https://publications.scilifelab.se/researcher/753ffaa3a5034b6a9f83d9b1c8c4729e.json"}}, {"family": "Mook-Kanamori", "given": "Dennis", "initials": "D"}, {"family": "Munroe", "given": "Patricia B", "initials": "PB", "orcid": "0000-0002-4176-2947", "researcher": {"href": "https://publications.scilifelab.se/researcher/657544a7f921459f926aae5cd0e2065c.json"}}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Nyholt", "given": "Dale R", "initials": "DR", "orcid": "0000-0001-7159-3040", "researcher": {"href": "https://publications.scilifelab.se/researcher/47a453fa958c437abad4c72e99f972b0.json"}}, {"family": "O'connell", "given": "Jeffery R", "initials": "JR"}, {"family": "Ober", "given": "Carole", "initials": "C", "orcid": "0000-0003-4626-9809", "researcher": {"href": "https://publications.scilifelab.se/researcher/01bbab97f98e43b593ac19be5ba3df72.json"}}, {"family": "Oldehinkel", "given": "Albertine J", "initials": "AJ", "orcid": "0000-0003-3925-3913", "researcher": {"href": "https://publications.scilifelab.se/researcher/65ee5f9938f547bcbe51cbaf5fd7a9ba.json"}}, {"family": "Palmas", "given": "Walter", "initials": "W"}, {"family": "Palmer", "given": "Colin", "initials": "C", "orcid": "0000-0002-6415-6560", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a0f019dcb7a453a84480953a5514dd5.json"}}, {"family": "Pasterkamp", "given": "Gerard G", "initials": "GG"}, {"family": "Patin", "given": "Etienne", "initials": "E"}, {"family": "Pennell", "given": "Craig E", "initials": "CE"}, {"family": "Perusse", "given": "Louis", "initials": "L", "orcid": "0000-0001-6440-9698", "researcher": {"href": "https://publications.scilifelab.se/researcher/28a47f0e72074741a12430ffd7555a0a.json"}}, {"family": "Peyser", "given": "Patricia A", "initials": "PA"}, {"family": "Pirastu", "given": "Mario", "initials": "M"}, {"family": "Polderman", "given": "Tinca J C", "initials": "TJC", "orcid": "0000-0001-5564-301X", "researcher": {"href": "https://publications.scilifelab.se/researcher/80068e29fa614ba4a9bc0b070723ff75.json"}}, {"family": "Porteous", "given": "David J", "initials": "DJ", "orcid": "0000-0003-1249-6106", "researcher": {"href": "https://publications.scilifelab.se/researcher/b6e3ae11c02e4cb89e638e1e5ae0f50a.json"}}, {"family": "Posthuma", "given": "Danielle", "initials": "D"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Rioux", "given": "John D", "initials": "JD", "orcid": "0000-0001-7560-8326", "researcher": {"href": "https://publications.scilifelab.se/researcher/93bdd54d4d5d402481de2c66601100df.json"}}, {"family": "Rivadeneira", "given": "Fernando", "initials": "F", "orcid": "0000-0001-9435-9441", "researcher": {"href": "https://publications.scilifelab.se/researcher/f8894904d3cf4671a2e563169829322a.json"}}, {"family": "Rotimi", "given": "Charles", "initials": "C", "orcid": "0000-0001-5759-053X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7fa2951fdebf4fddaad296d49b8f3f2b.json"}}, {"family": "Rotter", "given": "Jerome I", "initials": "JI", "orcid": "0000-0001-7191-1723", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e9bdbf58ae94fc8b455bbbcbcaa50ce.json"}}, {"family": "Rudan", "given": "Igor", "initials": "I", "orcid": "0000-0001-6993-6884", "researcher": {"href": "https://publications.scilifelab.se/researcher/d50e1ca836e841f8a7a748ae93b59d75.json"}}, {"family": "Den Ruijter", "given": "Hester M", "initials": "HM"}, {"family": "Sanghera", "given": "Dharambir K", "initials": "DK"}, {"family": "Sattar", "given": "Naveed", "initials": "N", "orcid": "0000-0002-1604-2593", "researcher": {"href": "https://publications.scilifelab.se/researcher/80fbc7cdcfc444acb066449f80f87181.json"}}, {"family": "Schmidt", "given": "Reinhold", "initials": "R"}, {"family": "Schulze", "given": "Matthias B", "initials": "MB"}, {"family": "Schunkert", "given": "Heribert", "initials": "H"}, {"family": "Scott", "given": "Robert A", "initials": "RA"}, {"family": "Shuldiner", "given": "Alan R", "initials": "AR"}, {"family": "Sim", "given": "Xueling", "initials": "X", "orcid": "0000-0002-1233-7642", "researcher": {"href": "https://publications.scilifelab.se/researcher/3216a8d2a7264a1390a886fa09d5d648.json"}}, {"family": "Small", "given": "Neil", "initials": "N"}, {"family": "Smith", "given": "Jennifer A", "initials": "JA", "orcid": "0000-0002-3575-5468", "researcher": {"href": "https://publications.scilifelab.se/researcher/311c7381092b4143bcd2e4ef93250526.json"}}, {"family": "Sotoodehnia", "given": "Nona", "initials": "N"}, {"family": "Tai", "given": "E-Shyong", "initials": "ES"}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc9c2667a55b47a6a08aea764fab0946.json"}}, {"family": "Timpson", "given": "Nicholas J", "initials": "NJ", "orcid": "0000-0002-7141-9189", "researcher": {"href": "https://publications.scilifelab.se/researcher/764ab7a82db24557a5de0fad97bf53f3.json"}}, {"family": "Toniolo", "given": "Daniela", "initials": "D"}, {"family": "Tregouet", "given": "David-Alexandre", "initials": "DA"}, {"family": "Tuomi", "given": "Tiinamaija", "initials": "T", "orcid": "0000-0002-8306-6202", "researcher": {"href": "https://publications.scilifelab.se/researcher/19f5ce9936ca454c85f0af966acac5c0.json"}}, {"family": "Vollenweider", "given": "Peter", "initials": "P"}, {"family": "Wang", "given": "Carol A", "initials": "CA", "orcid": "0000-0002-4301-3974", "researcher": {"href": "https://publications.scilifelab.se/researcher/bf99a43c27034a68976e978b104a91d7.json"}}, {"family": "Weir", "given": "David R", "initials": "DR", "orcid": "0000-0002-1661-2402", "researcher": {"href": "https://publications.scilifelab.se/researcher/f90b7cfe829845fb8cbea9558a5c82a7.json"}}, {"family": "Whitfield", "given": "John B", "initials": "JB", "orcid": "0000-0002-1103-0876", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0f61a914f9748ee9047301da8026bd7.json"}}, {"family": "Wijmenga", "given": "Cisca", "initials": "C"}, {"family": "Wong", "given": "Tien-Yin", "initials": "TY"}, {"family": "Wright", "given": "John", "initials": "J"}, {"family": "Yang", "given": "Jingyun", "initials": "J"}, {"family": "Yu", "given": "Lei", "initials": "L"}, {"family": "Zemel", "given": "Babette S", "initials": "BS"}, {"family": "Zonderman", "given": "Alan B", "initials": "AB"}, {"family": "Perola", "given": "Markus", "initials": "M"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE", "orcid": "0000-0002-7315-7899", "researcher": {"href": "https://publications.scilifelab.se/researcher/b277b6387de142bbab91fad82d9eff09.json"}}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG", "orcid": "0000-0002-7276-3387", "researcher": {"href": "https://publications.scilifelab.se/researcher/273577b238854023a9dffe34dabc3551.json"}}, {"family": "Kooner", "given": "Jaspal S", "initials": "JS"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications.scilifelab.se/researcher/e5b6c24c302d42828806076ded81afe1.json"}}, {"family": "Franceschini", "given": "Nora", "initials": "N"}, {"family": "Franke", "given": "Lude", "initials": "L", "orcid": "0000-0002-5159-8802", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee63161f78274a53b615c05555b81a10.json"}}, {"family": "Haley", "given": "Chris S", "initials": "CS", "orcid": "0000-0002-9811-0210", "researcher": {"href": "https://publications.scilifelab.se/researcher/c4fee769cfe84186abbc285881e0529c.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "Walters", "given": "Robin G", "initials": "RG", "orcid": "0000-0002-9179-0321", "researcher": {"href": "https://publications.scilifelab.se/researcher/f36254611faa44b782b76da870e89bd3.json"}}, {"family": "Perry", "given": "John R B", "initials": "JRB"}, {"family": "Esko", "given": "T\u014dnu", "initials": "T"}, {"family": "Helgason", "given": "Agnar", "initials": "A"}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Joshi", "given": "Peter K", "initials": "PK", "orcid": "0000-0002-6361-5059", "researcher": {"href": "https://publications.scilifelab.se/researcher/46050ddec8f64054b3bab46c5016aebf.json"}}, {"family": "Kubo", "given": "Michiaki", "initials": "M"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications.scilifelab.se/researcher/b39e6e0f7210494cb4f80be0f7413b6f.json"}}], "type": "journal article", "published": "2019-10-31", "journal": {"volume": "10", "issn": "2041-1723", "issue": "1", "pages": "4957", "title": "Nat Commun", "issn-l": "2041-1723"}, "abstract": "In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.", "doi": "10.1038/s41467-019-12283-6", "pmid": "31673082", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC6823371"}, {"db": "pii", "key": "10.1038/s41467-019-12283-6"}], "notes": [], "created": "2019-11-28T07:41:34.797Z", "modified": "2023-06-19T13:09:10.356Z"}, {"entity": "publication", "iuid": "5c89b2604ecd4e0eb9cbc8a13f7b3b5a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5c89b2604ecd4e0eb9cbc8a13f7b3b5a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5c89b2604ecd4e0eb9cbc8a13f7b3b5a"}}, "title": "Genetic variation in CADM2 as a link between psychological traits and obesity.", "authors": [{"family": "Morris", "given": "Julia", "initials": "J"}, {"family": "Bailey", "given": "Mark E S", "initials": "MES", "orcid": "0000-0002-9788-2278", "researcher": {"href": "https://publications.scilifelab.se/researcher/3919edd84f254870a5644770152360b6.json"}}, {"family": "Baldassarre", "given": "Damiano", "initials": "D"}, {"family": "Cullen", "given": "Breda", "initials": "B", "orcid": "0000-0002-7259-9505", "researcher": {"href": "https://publications.scilifelab.se/researcher/ff824f9a62154c718c075ad56b01177b.json"}}, {"family": "de Faire", "given": "Ulf", "initials": "U"}, {"family": "Ferguson", "given": "Amy", "initials": "A"}, {"family": "Gigante", "given": "Bruna", "initials": "B", "orcid": "0000-0003-4508-7990", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ac1bdc52e3241ea9eb5645f603229a3.json"}}, {"family": "Giral", "given": "Philippe", "initials": "P"}, {"family": "Goel", "given": "Anuj", "initials": "A"}, {"family": "Graham", "given": "Nicholas", "initials": "N"}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "Humphries", "given": "Steve E", "initials": "SE"}, {"family": "Johnston", "given": "Keira J A", "initials": "KJA", "orcid": "0000-0002-1370-3149", "researcher": {"href": "https://publications.scilifelab.se/researcher/ff151def49174d388b1b3e8619c2b329.json"}}, {"family": "Lyall", "given": "Donald M", "initials": "DM", "orcid": "0000-0003-3850-1487", "researcher": {"href": "https://publications.scilifelab.se/researcher/f1b08351693e4fb5b387edd6d9a9d347.json"}}, {"family": "Lyall", "given": "Laura M", "initials": "LM"}, {"family": "Sennblad", "given": "Bengt", "initials": "B"}, {"family": "Silveira", "given": "Angela", "initials": "A"}, {"family": "Smit", "given": "Andries J", "initials": "AJ"}, {"family": "Tremoli", "given": "Elena", "initials": "E"}, {"family": "Veglia", "given": "Fabrizio", "initials": "F"}, {"family": "Ward", "given": "Joey", "initials": "J"}, {"family": "Watkins", "given": "Hugh", "initials": "H"}, {"family": "Smith", "given": "Daniel J", "initials": "DJ", "orcid": "0000-0002-2267-1951", "researcher": {"href": "https://publications.scilifelab.se/researcher/1bba9787f512483d8eaf6cffc8743271.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}], "type": "journal article", "published": "2019-05-14", "journal": {"volume": "9", "issn": "2045-2322", "issue": "1", "pages": "7339", "title": "Sci Rep", "issn-l": "2045-2322"}, "abstract": "CADM2 has been associated with a range of behavioural and metabolic traits, including physical activity, risk-taking, educational attainment, alcohol and cannabis use and obesity. Here, we set out to determine whether CADM2 contributes to mechanisms shared between mental and physical health disorders. We assessed genetic variants in the CADM2 locus for association with phenotypes in the UK Biobank, IMPROVE, PROCARDIS and SCARFSHEEP studies, before performing meta-analyses. A wide range of metabolic phenotypes were meta-analysed. Psychological phenotypes analysed in UK Biobank only were major depressive disorder, generalised anxiety disorder, bipolar disorder, neuroticism, mood instability and risk-taking behaviour. In UK Biobank, four, 88 and 172 genetic variants were significantly (p < 1 \u00d7 10 -5) associated with neuroticism, mood instability and risk-taking respectively. In meta-analyses of 4 cohorts, we identified 362, 63 and 11 genetic variants significantly (p < 1 \u00d7 10-5) associated with BMI, SBP and CRP respectively. Genetic effects on BMI, CRP and risk-taking were all positively correlated, and were consistently inversely correlated with genetic effects on SBP, mood instability and neuroticism. Conditional analyses suggested an overlap in the signals for physical and psychological traits. Many significant variants had genotype-specific effects on CADM2 expression levels in adult brain and adipose tissues. CADM2 variants influence a wide range of both psychological and metabolic traits, suggesting common biological mechanisms across phenotypes via regulation of CADM2 expression levels in adipose tissue. Functional studies of CADM2 are required to fully understand mechanisms connecting mental and physical health conditions.", "doi": "10.1038/s41598-019-43861-9", "pmid": "31089183", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41598-019-43861-9"}, {"db": "pmc", "key": "PMC6517397"}], "notes": [], "created": "2019-05-24T13:45:02.246Z", "modified": "2021-06-16T14:52:17.199Z"}, {"entity": "publication", "iuid": "aaaf64893fe54c5196aaf8f4943829e6", "links": {"self": {"href": "https://publications.scilifelab.se/publication/aaaf64893fe54c5196aaf8f4943829e6.json"}, "display": {"href": "https://publications.scilifelab.se/publication/aaaf64893fe54c5196aaf8f4943829e6"}}, "title": "PDGFB, a new candidate plasma biomarker for venous thromboembolism: results from the VEREMA affinity proteomics study.", "authors": [{"family": "Bruzelius", "given": "Maria", "initials": "M"}, {"family": "Iglesias", "given": "Maria Jesus", "initials": "MJ", "orcid": "0000-0003-4122-1945", "researcher": {"href": "https://publications.scilifelab.se/researcher/adccb07f0a744e648516bd7b672d70be.json"}}, {"family": "Hong", "given": "Mun-Gwan", "initials": "MG", "orcid": "0000-0001-8808-7128", "researcher": {"href": "https://publications.scilifelab.se/researcher/45ca6e46c2f1486199d08bc9f9b702be.json"}}, {"family": "Sanchez-Rivera", "given": "Laura", "initials": "L"}, {"family": "Gyorgy", "given": "Beata", "initials": "B"}, {"family": "Souto", "given": "Juan Carlos", "initials": "JC"}, {"family": "Fr\u00e5nberg", "given": "Mattias", "initials": "M"}, {"family": "Fredolini", "given": "Claudia", "initials": "C", "orcid": "0000-0002-7674-2014", "researcher": {"href": "https://publications.scilifelab.se/researcher/40ac3a5823cb4f998cc8bdb96dcbf195.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ac5060a3b37466dae002d4ad8f4d0ac.json"}}, {"family": "Holmstr\u00f6m", "given": "Margareta", "initials": "M"}, {"family": "Hamsten", "given": "Anders", "initials": "A", "orcid": "0000-0002-0618-0538", "researcher": {"href": "https://publications.scilifelab.se/researcher/fb944b0f90b64afc8162f15874069946.json"}}, {"family": "Uhl\u00e9n", "given": "Mathias", "initials": "M", "orcid": "0000-0002-4858-8056", "researcher": {"href": "https://publications.scilifelab.se/researcher/ff81da3cb0cf4262873b993a1b06798c.json"}}, {"family": "Silveira", "given": "Angela", "initials": "A", "orcid": "0000-0003-2063-4935", "researcher": {"href": "https://publications.scilifelab.se/researcher/6fd1197769804dd48b9de86f11340ef2.json"}}, {"family": "Soria", "given": "Jose Manuel", "initials": "JM"}, {"family": "Smadja", "given": "David M", "initials": "DM", "orcid": "0000-0001-7731-9202", "researcher": {"href": "https://publications.scilifelab.se/researcher/bc861e04da204cc9a00a047a026c8b7a.json"}}, {"family": "Butler", "given": "Lynn M", "initials": "LM", "orcid": "0000-0002-2352-8217", "researcher": {"href": "https://publications.scilifelab.se/researcher/069263856386498c8262acf10587177c.json"}}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications.scilifelab.se/researcher/aba5822711b246b397fffacb7ae403b3.json"}}, {"family": "Morange", "given": "Pierre-Emmanuel", "initials": "PE", "orcid": "0000-0002-9065-722X", "researcher": {"href": "https://publications.scilifelab.se/researcher/a85b080902c04dacb81456efa67374db.json"}}, {"family": "Tr\u00e9gou\u00ebt", "given": "David-Alexandre", "initials": "DA", "orcid": "0000-0001-9084-7800", "researcher": {"href": "https://publications.scilifelab.se/researcher/adb3fe1a732b41d79a4a165a64c322d1.json"}}, {"family": "Odeberg", "given": "Jacob", "initials": "J", "orcid": "0000-0003-0996-1644", "researcher": {"href": "https://publications.scilifelab.se/researcher/d1f04395fea84d898a8fe2a9875e79c4.json"}}], "type": "clinical trial", "published": "2016-12-08", "journal": {"volume": "128", "issn": "1528-0020", "issue": "23", "pages": "e59-e66", "title": "Blood", "issn-l": "0006-4971"}, "abstract": "There is a clear clinical need for high-specificity plasma biomarkers for predicting risk of venous thromboembolism (VTE), but thus far, such markers have remained elusive. Utilizing affinity reagents from the Human Protein Atlas project and multiplexed immuoassays, we extensively analyzed plasma samples from 2 individual studies to identify candidate protein markers associated with VTE risk. We screened plasma samples from 88 VTE cases and 85 matched controls, collected as part of the Swedish \"Venous Thromboembolism Biomarker Study,\" using suspension bead arrays composed of 755 antibodies targeting 408 candidate proteins. We identified significant associations between VTE occurrence and plasma levels of human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), von Willebrand factor (VWF), glutathione peroxidase 3 (GPX3), and platelet-derived growth factor \u03b2 (PDGFB). For replication, we profiled plasma samples of 580 cases and 589 controls from the French FARIVE study. These results confirmed the association of VWF and PDGFB with VTE after correction for multiple testing, whereas only weak trends were observed for HIVEP1 and GPX3. Although plasma levels of VWF and PDGFB correlated modestly (\u03c1 \u223c 0.30) with each other, they were independently associated with VTE risk in a joint model in FARIVE (VWF P < .001; PDGFB P = .002). PDGF\u0392 was verified as the target of the capture antibody by immunocapture mass spectrometry and sandwich enzyme-linked immunosorbent assay. In conclusion, we demonstrate that high-throughput affinity plasma proteomic profiling is a valuable research strategy to identify potential candidate biomarkers for thrombosis-related disorders, and our study suggests a novel association of PDGFB plasma levels with VTE.", "doi": "10.1182/blood-2016-05-711846", "pmid": "27742707", "labels": {"Affinity Proteomics Stockholm": "Collaborative"}, "xrefs": [{"db": "pii", "key": "S0006-4971(20)33937-9"}], "notes": [], "created": "2017-05-03T12:59:07.466Z", "modified": "2023-06-19T13:11:23.382Z"}]}