{"entity": "researcher", "timestamp": "2026-07-18T03:28:43.504Z", "family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "affiliations": ["Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.", "Department of Drug Treatment, Sahlgrenska University Hospital, Gothenburg, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a"}}, "publications": [{"entity": "publication", "iuid": "0e45658433fb4fd68d5f344433957d24", "links": {"self": {"href": "https://publications.scilifelab.se/publication/0e45658433fb4fd68d5f344433957d24.json"}, "display": {"href": "https://publications.scilifelab.se/publication/0e45658433fb4fd68d5f344433957d24"}}, "title": "A transcriptional atlas of the pubertal human growth plate reveals two populations of stem cells and direct effect of growth hormone.", "authors": [{"family": "Chu", "given": "Nelson Tsz Long", "initials": "NTL", "orcid": "0000-0001-8553-6880", "researcher": {"href": "https://publications.scilifelab.se/researcher/771e0a6c700f4b4f9765f9a2811608eb.json"}}, {"family": "Dregval", "given": "Ostap", "initials": "O", "orcid": "0000-0002-9939-6492", "researcher": {"href": "https://publications.scilifelab.se/researcher/2a3d8ecff20444e9bf82f702e21e736c.json"}}, {"family": "Zaman", "given": "Farasat", "initials": "F", "orcid": "0000-0002-1832-1051", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c082df96e5c43afbca28c5c6f8e7810.json"}}, {"family": "Li", "given": "Lei", "initials": "L", "orcid": "0000-0002-8026-3665", "researcher": {"href": "https://publications.scilifelab.se/researcher/31e881d87f094a92bc6b34f734ffe12f.json"}}, {"family": "Tian", "given": "Xin", "initials": "X"}, {"family": "Liu", "given": "Xin", "initials": "X"}, {"family": "Trompet", "given": "Dana", "initials": "D", "orcid": "0000-0001-9472-6184", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ef4d02ec2e1427088522df2a759bf3a.json"}}, {"family": "Zhou", "given": "Baoyi", "initials": "B"}, {"family": "Heinonen", "given": "Jussi O", "initials": "JO"}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}, {"family": "S\u00e4vendahl", "given": "Lars", "initials": "L", "orcid": "0000-0003-1067-4976", "researcher": {"href": "https://publications.scilifelab.se/researcher/6da067b5b4a34625806e9335fa921f09.json"}}, {"family": "Adameyko", "given": "Igor", "initials": "I", "orcid": "0000-0001-5471-0356", "researcher": {"href": "https://publications.scilifelab.se/researcher/346f484a56cb4ad5b866b194ccd44e4f.json"}}, {"family": "Chagin", "given": "Andrei S", "initials": "AS", "orcid": "0000-0002-2696-5850", "researcher": {"href": "https://publications.scilifelab.se/researcher/909bca2fc68645e980a93b99dc150e4c.json"}}], "type": "journal article", "published": "2026-04-15", "journal": {"title": "Sci Transl Med", "issn": "1946-6242", "volume": "18", "issue": "845", "pages": "eadw3590", "issn-l": "1946-6234"}, "abstract": "The cartilaginous growth plate is a critical organ responsible for longitudinal bone growth. It closes after puberty in humans but remains open throughout life in mice. Although cartilage stem cells have been identified in murine growth plates, their existence in humans and their regulation by growth hormone (GH), the most widely used therapy for growth retardation, remain unknown. Here, we characterized the cellular and molecular organization of early pubertal human growth plates using unique surgical specimens from growth-restricting procedures and examined their direct responsiveness to GH. Single-cell and spatial analyses revealed two distinct stemlike populations in the resting zone, differing in proliferative activity, molecular identity, and regulatory cues. The root stem cells express multiple skeletal stem cell markers but not parathyroid hormone-related peptide and reside in a specialized microenvironment low in WNT and TGF-\u03b2 growth factors. A similar population was identified in transcriptionally profiled unsorted murine growth plates, and clonal lineage tracing demonstrated that these root cells, marked by expression of the Prrx1 gene, generate extensive chondrocyte clones and differentiate into stromal and osteoblastic lineages, confirming their stem cell properties. Human growth plate explant cultures showed that GH directly activates JAK/STAT, TGF-\u03b2, and ERK intracellular signaling pathways, inhibits AKT signaling, and stimulates cartilage growth and proliferation of cartilage stem cells and chondrocytes in the proliferative zone. Together, these findings uncover a conserved dual stem cell organization in human and mouse growth plates and define direct mechanisms of GH action, providing a framework for optimizing growth-promoting therapies.", "doi": "10.1126/scitranslmed.adw3590", "pmid": "41984930", "labels": {"NGI Short read": "Service", "NGI Stockholm (Genomics Production)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [], "notes": [], "created": "2026-05-11T12:02:43.939Z", "modified": "2026-05-11T12:02:44.448Z"}, {"entity": "publication", "iuid": "1021326661cc476399928b055a37a4e8", "links": {"self": {"href": "https://publications.scilifelab.se/publication/1021326661cc476399928b055a37a4e8.json"}, "display": {"href": "https://publications.scilifelab.se/publication/1021326661cc476399928b055a37a4e8"}}, "title": "Genome-wide association analyses highlight the role of the intestinal molecular environment in human gut microbiota variation.", "authors": [{"family": "Dekkers", "given": "Koen F", "initials": "KF", "orcid": "0000-0002-4074-7235", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee8d56ef781e42d5b6f21b551054a3e7.json"}}, {"family": "Pertiwi", "given": "Kamalita", "initials": "K", "orcid": "0000-0003-2861-9051", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9cb279b53204e51b202134c82cf680f.json"}}, {"family": "Baldanzi", "given": "Gabriel", "initials": "G", "orcid": "0000-0003-3962-3953", "researcher": {"href": "https://publications.scilifelab.se/researcher/577652ffb15442e1a47a9aaffc3b52e7.json"}}, {"family": "Lundmark", "given": "Per", "initials": "P", "orcid": "0009-0006-2334-8802", "researcher": {"href": "https://publications.scilifelab.se/researcher/f30b1a2e60d646c4a0cc0be06ffe77dd.json"}}, {"family": "Hammar", "given": "Ulf", "initials": "U"}, {"family": "Moksnes", "given": "Marta Riise", "initials": "MR", "orcid": "0000-0002-2690-5153", "researcher": {"href": "https://publications.scilifelab.se/researcher/15fd5ce3d43a4b76a7a7e710e8724a6f.json"}}, {"family": "Coward", "given": "Eivind", "initials": "E", "orcid": "0009-0008-1323-3555", "researcher": {"href": "https://publications.scilifelab.se/researcher/6a4792db14b645b9b5134243f9ca7b60.json"}}, {"family": "Nethander", "given": "Maria", "initials": "M", "orcid": "0000-0003-3688-906X", "researcher": {"href": "https://publications.scilifelab.se/researcher/53d61951f51c4d40bef24672866382cb.json"}}, {"family": "Salih", "given": "Ghassan Ali", "initials": "GA", "orcid": "0009-0003-5938-8222", "researcher": {"href": "https://publications.scilifelab.se/researcher/d6d97b18c7cc44dcbc9aed652c6f7c46.json"}}, {"family": "Miari", "given": "Mariam", "initials": "M"}, {"family": "Nguyen", "given": "Diem", "initials": "D", "orcid": "0000-0002-9680-5772", "researcher": {"href": "https://publications.scilifelab.se/researcher/d78958133e474831ac76dacc36f68cbb.json"}}, {"family": "Sayols-Baixeras", "given": "Sergi", "initials": "S"}, {"family": "Eklund", "given": "Aron C", "initials": "AC", "orcid": "0000-0003-0861-1001", "researcher": {"href": "https://publications.scilifelab.se/researcher/9f1b0f6b48de45f7916e14d6a4defb09.json"}}, {"family": "Holm", "given": "Jacob Bak", "initials": "JB", "orcid": "0000-0003-1756-0875", "researcher": {"href": "https://publications.scilifelab.se/researcher/359fa6a18dc549a8852dd3990ccde1f1.json"}}, {"family": "Nielsen", "given": "H Bj\u00f8rn", "initials": "HB", "orcid": "0000-0003-2281-5713", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1d5f2e0565a46bcbccfc973eec9e838.json"}}, {"family": "Volpiano", "given": "Camila Gazolla", "initials": "CG"}, {"family": "M\u00e9ric", "given": "Guillaume", "initials": "G", "orcid": "0000-0001-6288-9958", "researcher": {"href": "https://publications.scilifelab.se/researcher/229f8c463d1a4eef945c2b62b77977ab.json"}}, {"family": "Thangam", "given": "Manonanthini", "initials": "M", "orcid": "0000-0002-7164-6525", "researcher": {"href": "https://publications.scilifelab.se/researcher/d09c26b1d20c4539b46824ee62c69ded.json"}}, {"family": "Hakaste", "given": "Liisa", "initials": "L"}, {"family": "Tuomi", "given": "Tiinamaija", "initials": "T"}, {"family": "Ahlqvist", "given": "Emma", "initials": "E", "orcid": "0000-0002-6513-2384", "researcher": {"href": "https://publications.scilifelab.se/researcher/415b737a7da04f13ab0fd104c375b097.json"}}, {"family": "Smith", "given": "Christopher A", "initials": "CA"}, {"family": "Allen", "given": "Marie", "initials": "M"}, {"family": "Reimann", "given": "Frank", "initials": "F", "orcid": "0000-0001-9399-6377", "researcher": {"href": "https://publications.scilifelab.se/researcher/8d899786a20c44dcbb8aec2e895c6ba9.json"}}, {"family": "Gribble", "given": "Fiona M", "initials": "FM", "orcid": "0000-0002-4232-2898", "researcher": {"href": "https://publications.scilifelab.se/researcher/3381ad13c9464a80bbf910009844722e.json"}}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}, {"family": "Hveem", "given": "Kristian", "initials": "K"}, {"family": "Melander", "given": "Olle", "initials": "O"}, {"family": "Nilsson", "given": "Peter M", "initials": "PM", "orcid": "0000-0002-5652-8459", "researcher": {"href": "https://publications.scilifelab.se/researcher/f23c2a10ac2a4d73a8f62b94855635f1.json"}}, {"family": "Engstr\u00f6m", "given": "Gunnar", "initials": "G"}, {"family": "Smith", "given": "J Gustav", "initials": "JG"}, {"family": "Micha\u00eblsson", "given": "Karl", "initials": "K"}, {"family": "\u00c4rnl\u00f6v", "given": "Johan", "initials": "J"}, {"family": "Orho-Melander", "given": "Marju", "initials": "M", "orcid": "0000-0002-3578-2503", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e54fbe6f0fc4eed93108b382e1b2952.json"}}, {"family": "Fall", "given": "Tove", "initials": "T", "orcid": "0000-0003-2071-5866", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ed3f066719f43b291743a8bdaf3d2a0.json"}}], "type": "journal article", "published": "2026-03-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "58", "issue": "3", "pages": "540-549", "issn-l": "1061-4036"}, "abstract": "Despite the importance of the gut microbiome to health, the role of human genetic variation in shaping its composition remains poorly understood. Here we report genome-wide association analyses of harmonized metagenomic data from 16,017 adults in four Swedish population-based studies, with replication in 12,652 people from the Norwegian HUNT study. We identified variants in the OR51E1-OR51E2 locus, encoding sensors for microbiome-derived fatty acids, associated with microbial richness. We further identified 15 study-wide significant genetic associations (P < 5.4 \u00d7 10-11) involving eight loci and 14 common bacterial species, of which 11 associations at six loci were replicated. The results confirm previously reported associations at LCT, ABO and FUT2, and provide evidence for new loci MUC12, CORO7-HMOX2, SLC5A11, FOXP1 and FUT3-FUT6, with supporting data from metabolomics and gene expression analyses. Our findings link gut microbial variation genetically to gastrointestinal functions, including enteroendocrine fatty acid sensing, bile composition and mucosal layer composition.", "doi": "10.1038/s41588-026-02512-2", "pmid": "41688638", "labels": {"National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12987725"}, {"db": "pii", "key": "10.1038/s41588-026-02512-2"}], "notes": [], "created": "2026-03-19T16:36:11.040Z", "modified": "2026-03-19T16:36:12.549Z"}, {"entity": "publication", "iuid": "b31162b460c7480c87a7be42d41b600a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/b31162b460c7480c87a7be42d41b600a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/b31162b460c7480c87a7be42d41b600a"}}, "title": "The HUNT study identifies host genetic factors reproducibly associated with human gut microbiota composition", "authors": [{"family": "Moksnes", "given": "Marta Riise", "initials": "MR", "orcid": "0000-0002-2690-5153", "researcher": {"href": "https://publications.scilifelab.se/researcher/15fd5ce3d43a4b76a7a7e710e8724a6f.json"}}, {"family": "Coward", "given": "Eivind", "initials": "E", "orcid": "0009-0008-1323-3555", "researcher": {"href": "https://publications.scilifelab.se/researcher/6a4792db14b645b9b5134243f9ca7b60.json"}}, {"family": "Nethander", "given": "Maria", "initials": "M", "orcid": "0000-0003-3688-906X", "researcher": {"href": "https://publications.scilifelab.se/researcher/53d61951f51c4d40bef24672866382cb.json"}}, {"family": "Dekkers", "given": "Koen", "initials": "K", "orcid": "0000-0002-4074-7235", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee8d56ef781e42d5b6f21b551054a3e7.json"}}, {"family": "Grahnemo", "given": "Louise", "initials": "L", "orcid": "0000-0001-5276-6612", "researcher": {"href": "https://publications.scilifelab.se/researcher/bb1ac8fe74954a5db43e8e6538cf8235.json"}}, {"family": "T\u00f6rnqvist", "given": "Anna E", "initials": "AE"}, {"family": "Li", "given": "Lei", "initials": "L"}, {"family": "Lundmark", "given": "Per", "initials": "P", "orcid": "0009-0006-2334-8802", "researcher": {"href": "https://publications.scilifelab.se/researcher/f30b1a2e60d646c4a0cc0be06ffe77dd.json"}}, {"family": "Pertiwi", "given": "Kamalita", "initials": "K", "orcid": "0000-0003-2861-9051", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9cb279b53204e51b202134c82cf680f.json"}}, {"family": "Baldanzi", "given": "Gabriel", "initials": "G", "orcid": "0000-0003-3962-3953", "researcher": {"href": "https://publications.scilifelab.se/researcher/577652ffb15442e1a47a9aaffc3b52e7.json"}}, {"family": "Mjelle", "given": "Robin", "initials": "R"}, {"family": "Moll", "given": "Janne Marie", "initials": "JM", "orcid": "0000-0002-3514-4528", "researcher": {"href": "https://publications.scilifelab.se/researcher/52e482fb976e4bb3a212d98b981c9f2f.json"}}, {"family": "Eklund", "given": "Aron Charles", "initials": "AC", "orcid": "0000-0003-0861-1001", "researcher": {"href": "https://publications.scilifelab.se/researcher/9f1b0f6b48de45f7916e14d6a4defb09.json"}}, {"family": "Nielsen", "given": "Henrik Bj\u00f8rn", "initials": "HB", "orcid": "0000-0003-2281-5713", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1d5f2e0565a46bcbccfc973eec9e838.json"}}, {"family": "Svensson", "given": "Johan", "initials": "J", "orcid": "0000-0002-4487-6405", "researcher": {"href": "https://publications.scilifelab.se/researcher/fdbca5fe77124646b51e9c55dae4d361.json"}}, {"family": "Langhammer", "given": "Arnulf", "initials": "A", "orcid": "0000-0001-5296-6673", "researcher": {"href": "https://publications.scilifelab.se/researcher/755b4b39d8054f2ea3e28476a7b0ae39.json"}}, {"family": "Giske\u00f8deg\u00e5rd", "given": "Guro F", "initials": "GF", "orcid": "0000-0003-2157-8824", "researcher": {"href": "https://publications.scilifelab.se/researcher/57d6962d8112403fb823764ce0a0d6c6.json"}}, {"family": "Brumpton", "given": "Ben", "initials": "B", "orcid": "0000-0002-3058-1059", "researcher": {"href": "https://publications.scilifelab.se/researcher/da9d23aaf1dc4d18a0a13e4847ea9955.json"}}, {"family": "Hjort", "given": "Rebecka", "initials": "R"}, {"family": "Ness-Jensen", "given": "Eivind", "initials": "E", "orcid": "0000-0001-6005-0729", "researcher": {"href": "https://publications.scilifelab.se/researcher/d619713fc5764a5e9b88c7c012cf0cf1.json"}}, {"family": "Engstr\u00f6m", "given": "Gunnar", "initials": "G", "orcid": "0000-0002-8618-9152", "researcher": {"href": "https://publications.scilifelab.se/researcher/b40c03613a3a46368ed855fc95b79e31.json"}}, {"family": "Pelaseyed", "given": "Thaher", "initials": "T", "orcid": "0000-0002-6434-3913", "researcher": {"href": "https://publications.scilifelab.se/researcher/9dc0aa3d9762420caa7efaaa19c1174b.json"}}, {"family": "Micha\u00eblsson", "given": "Karl", "initials": "K", "orcid": "0000-0003-2815-1217", "researcher": {"href": "https://publications.scilifelab.se/researcher/eff63868e95240f695d47e871e31947f.json"}}, {"family": "Orho-Melander", "given": "Marju", "initials": "M", "orcid": "0000-0002-3578-2503", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e54fbe6f0fc4eed93108b382e1b2952.json"}}, {"family": "Fall", "given": "Tove", "initials": "T", "orcid": "0000-0003-2071-5866", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ed3f066719f43b291743a8bdaf3d2a0.json"}}, {"family": "Hveem", "given": "Kristian", "initials": "K"}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}], "type": "journal-article", "published": "2026-03-00", "journal": {"title": "Nat Genet", "issn": "1061-4036", "volume": "58", "issue": "3", "pages": "530-539", "issn-l": "1061-4036"}, "abstract": "The gut microbiota is associated with human health and disease. Here we conducted a genome-wide association study of host genetic factors influencing gut microbiota composition in 12,652 individuals from the Tr\u00f8ndelag Health Study (HUNT), with replication in Nordic cohorts (n = 16,017-21,976). We identified 12 reproducible SNP-species associations across six genomic loci, including known (LCT, ABO) and novel (HLA-DQB1, MUC12, SLC37A2, FUT2) regions. Additionally, we detected genetic signals associated with gut microbiota functional modules at three loci (LCT, ABO, FUT2). Follow-up analyses suggest that these host-microbiota associations are linked to the pathogenesis of celiac disease and hemorrhoidal disease. Mendelian randomization analyses provided evidence supporting a causal effect of body mass index on gut microbiota composition. These findings highlight the interplay between host genetics and gut microbiota for human health and disease.", "doi": "10.1038/s41588-026-02502-4", "pmid": "41688637", "labels": {"National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12987729"}, {"db": "pii", "key": "10.1038/s41588-026-02502-4"}], "notes": [], "created": "2026-03-19T16:36:31.375Z", "modified": "2026-03-24T09:08:07.330Z"}, {"entity": "publication", "iuid": "1883c3293a9942b7bbff3df7e9c1d61b", "links": {"self": {"href": "https://publications.scilifelab.se/publication/1883c3293a9942b7bbff3df7e9c1d61b.json"}, "display": {"href": "https://publications.scilifelab.se/publication/1883c3293a9942b7bbff3df7e9c1d61b"}}, "title": "BMI during childhood and puberty - associations with blood pressure and hypertension.", "authors": [{"family": "Lilja", "given": "Lina", "initials": "L", "orcid": "0000-0003-2908-7456", "researcher": {"href": "https://publications.scilifelab.se/researcher/dbd8f5f9d6454648b700455cb1d64c91.json"}}, {"family": "Bygdell", "given": "Maria", "initials": "M", "orcid": "0000-0002-0737-8642", "researcher": {"href": "https://publications.scilifelab.se/researcher/b54e9b05bcb74e4a91a4e9cfcdf187aa.json"}}, {"family": "Martikainen", "given": "Jari", "initials": "J", "orcid": "0000-0003-0366-1683", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfd56b6dfb74494890131a51097996d8.json"}}, {"family": "Li", "given": "Huiqi", "initials": "H", "orcid": "0000-0002-1127-0829", "researcher": {"href": "https://publications.scilifelab.se/researcher/abcde2f8415b4c17971fcd44c25c3d50.json"}}, {"family": "Schmidt", "given": "Caroline", "initials": "C", "orcid": "0000-0001-8534-3237", "researcher": {"href": "https://publications.scilifelab.se/researcher/a80ef1ead9ec48bbbcdcd9a16724c716.json"}}, {"family": "Bergstr\u00f6m", "given": "G\u00f6ran", "initials": "G", "orcid": "0000-0003-4289-5722", "researcher": {"href": "https://publications.scilifelab.se/researcher/fbc3ade3079e4265ad42ed1be485bc24.json"}}, {"family": "Rosengren", "given": "Annika", "initials": "A", "orcid": "0000-0002-5409-6605", "researcher": {"href": "https://publications.scilifelab.se/researcher/59e4c8b35336454ab5f74df9c6b9531b.json"}}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}, {"family": "Kindblom", "given": "Jenny M", "initials": "JM", "orcid": "0000-0001-8437-0639", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d338479632e48c0ba14bf948e4cc34f.json"}}], "type": "journal article", "published": "2025-06-25", "journal": {"title": "Eur J Prev Cardiol", "issn": "2047-4881", "issn-l": "2047-4873"}, "abstract": "The present study aimed to evaluate the association between BMI during childhood and puberty and blood pressure and hypertension in midlife, and to explore midlife BMI as a potential mediator of these associations.\n\nWe linked the BMI Epidemiology Study Gothenburg (BEST) with developmental BMI, with the Swedish CArdioPulmonary bioImage Study (SCAPIS) with blood pressure and hypertension in midlife (n= 2394). The associations between childhood BMI (7-8 years) and pubertal BMI change (young adult BMI minus childhood BMI), and blood pressure and hypertension in midlife, were evaluated using linear or logistic regression models. Mediation analysis was conducted to evaluate the indirect effect, via midlife BMI, and the direct effect on blood pressure and hypertension. The analyses were adjusted for birth year and smoking.\n\nThe pubertal BMI change was positively associated with systolic and diastolic blood pressure and hypertension in midlife, independent of childhood BMI, in both men and women (p<0.01). For men but not for women, childhood BMI was positively associated with systolic and diastolic blood pressure in midlife, independent of the pubertal BMI change (p<0.01). No significant independent association was observed for childhood BMI with hypertension. Mediation analyses for the association between the pubertal BMI change and blood pressure and hypertension in midlife indicate that these associations were largely mediated by BMI in midlife.\n\nThese findings indicate that high blood pressure may originate in early life. A life-course approach for targeted prevention, starting already during the developmental years, could reduce the risk of high blood pressure.", "doi": "10.1093/eurjpc/zwaf376", "pmid": "40561523", "labels": {"Clinical Genomics": "Collaborative", "Clinical Genomics Gothenburg": "Collaborative"}, "xrefs": [{"db": "pii", "key": "8173940"}], "notes": [], "created": "2025-07-08T13:55:21.859Z", "modified": "2025-11-04T11:36:37.987Z"}, {"entity": "publication", "iuid": "9aae413414d3405e9f9bc77974cabc8a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9aae413414d3405e9f9bc77974cabc8a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9aae413414d3405e9f9bc77974cabc8a"}}, "title": "Birth Weight, Childhood and Young Adult Overweight, and the Risk of Coronary Heart Disease in Men.", "authors": [{"family": "Bramsved", "given": "Rebecka", "initials": "R", "orcid": "0000-0001-7773-9231", "researcher": {"href": "https://publications.scilifelab.se/researcher/ecbdd7caa5ac4ff88288f853b28ce611.json"}}, {"family": "Bygdell", "given": "Maria", "initials": "M", "orcid": "0000-0002-0737-8642", "researcher": {"href": "https://publications.scilifelab.se/researcher/b54e9b05bcb74e4a91a4e9cfcdf187aa.json"}}, {"family": "Martikainen", "given": "Jari", "initials": "J", "orcid": "0000-0003-0366-1683", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfd56b6dfb74494890131a51097996d8.json"}}, {"family": "M\u00e5rild", "given": "Staffan", "initials": "S"}, {"family": "Lindh", "given": "Ingela", "initials": "I", "orcid": "0000-0002-0673-3841", "researcher": {"href": "https://publications.scilifelab.se/researcher/69ff657ad1b14e508c6d7ee3ac36580d.json"}}, {"family": "Rosengren", "given": "Annika", "initials": "A", "orcid": "0000-0002-5409-6605", "researcher": {"href": "https://publications.scilifelab.se/researcher/59e4c8b35336454ab5f74df9c6b9531b.json"}}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}, {"family": "Kindblom", "given": "Jenny M", "initials": "JM", "orcid": "0000-0001-8437-0639", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d338479632e48c0ba14bf948e4cc34f.json"}}], "type": "journal article", "published": "2024-01-00", "journal": {"title": "Arterioscler. Thromb. Vasc. Biol.", "issn": "1524-4636", "volume": "44", "issue": "1", "pages": "314-321", "issn-l": "1079-5642"}, "abstract": "Low birth weight is a known risk factor for adult coronary heart disease (CHD), but the additional effect of weight development during childhood and early adult life has not been studied.\n\nWe included 35 659 men born 1945 to 1961 from the population-based BMI Epidemiology Study Gothenburg, with data available on birthweight, BMI in childhood (8 years), and BMI in young adulthood (20 years). Information on CHD diagnoses was retrieved from national registers. We used Cox proportional hazards regression to estimate hazard ratios and 95% CIs for the risk of early and late CHD (before and after 58.4 years of age, respectively).\n\nDuring follow-up, a total of 3380 cases of CHD (fatal and nonfatal) were registered. Birth weight was inversely associated with the risk of both early (hazard ratio, 0.88 per SD increase [95% CI, 0.84-0.92]) and late (hazard ratio, 0.94 per SD increase [95% CI, 0.90-0.98]) CHD, independently of BMI at 8 years and BMI change during puberty. In a model including birth weight (below or above the median) together with overweight at 8 and 20 years, only birth weight and young adult overweight, but not overweight in childhood, were significantly associated with the risk of CHD. A birth weight below the median, followed by overweight at 20 years of age was associated with a more than doubled risk of early CHD (hazard ratio, 2.29 [95% CI, 1.86-2.81]), compared with the reference (birth weight above the median and normal weight at 20 years of age). This excess risk was even more pronounced for a birthweight below 2.5 kg.\n\nWe demonstrate that low birth weight and young adult overweight are important developmental markers of risk for adult CHD. These findings motivate a life course perspective for prevention and risk assessment of adult CHD.", "doi": "10.1161/ATVBAHA.123.320095", "pmid": "37970719", "labels": {"Clinical Genomics Gothenburg": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10749680"}], "notes": [], "created": "2024-11-01T08:16:10.255Z", "modified": "2024-11-01T08:19:54.839Z"}, {"entity": "publication", "iuid": "8735767867ea40119ad8f0fe75671679", "links": {"self": {"href": "https://publications.scilifelab.se/publication/8735767867ea40119ad8f0fe75671679.json"}, "display": {"href": "https://publications.scilifelab.se/publication/8735767867ea40119ad8f0fe75671679"}}, "title": "Serum DHEA and Testosterone Levels Associate Inversely With Coronary Artery Calcification in Elderly Men.", "authors": [{"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}, {"family": "Nethander", "given": "Maria", "initials": "M", "orcid": "0000-0003-3688-906X", "researcher": {"href": "https://publications.scilifelab.se/researcher/53d61951f51c4d40bef24672866382cb.json"}}, {"family": "Norl\u00e9n", "given": "Anna-Karin", "initials": "A"}, {"family": "Poutanen", "given": "Matti", "initials": "M"}, {"family": "Gudmundsson", "given": "Elias Freyr", "initials": "EF"}, {"family": "Aspelund", "given": "Thor", "initials": "T", "orcid": "0000-0002-7998-5433", "researcher": {"href": "https://publications.scilifelab.se/researcher/ceb3e13bc7fa4683b1b11b7d33a01247.json"}}, {"family": "Sigurdsson", "given": "Sigurdur", "initials": "S"}, {"family": "Ryberg", "given": "Henrik", "initials": "H"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V"}, {"family": "Tivesten", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-8318-0486", "researcher": {"href": "https://publications.scilifelab.se/researcher/55ade4099dfd4859970a6fe21af50870.json"}}], "type": "journal article", "published": "2023-11-17", "journal": {"title": "J. Clin. Endocrinol. Metab.", "issn": "1945-7197", "issn-l": "0021-972X", "volume": "108", "issue": "12", "pages": "3272-3279"}, "abstract": "Epidemiological and preclinical data support cardiovascular, mainly protective, effects of sex steroids in men, but the mechanisms underlying the cardiovascular actions of sex steroids are poorly understood. Vascular calcification parallels the development of atherosclerosis, but is increasingly recognized as a diversified, highly regulated process, which itself may have pathophysiological importance for clinical cardiovascular events.\r\n\r\nTo investigate the association between serum sex steroids and coronary artery calcification (CAC) in elderly men.\r\n\r\nWe used gas chromatography tandem mass spectrometry to analyze a comprehensive sex steroid profile, including levels of dehydroepiandrosterone (DHEA), androstenedione, estrone, testosterone, estradiol, and dihydrotestosterone, in men from the population-based AGES-Reykjavik study (n = 1287, mean 76 years). Further, sex hormone-binding globulin (SHBG) was assayed and bioavailable hormone levels calculated. CAC score was determined by computed tomography. The main outcome measures were cross-sectional associations between dehydroepiandrosterone, androstenedione, estrone, testosterone, dihydrotestosterone, and estradiol and quintiles of CAC.\r\n\r\nSerum levels of DHEA, androstenedione, testosterone, dihydrotestosterone, and bioavailable testosterone showed significant inverse associations with CAC, while estrone, estradiol, bioavailable estradiol, and SHBG did not. DHEA, testosterone, and bioavailable testosterone remained associated with CAC after adjustment for traditional cardiovascular risk factors. In addition, our results support partially independent associations between adrenal-derived DHEA and testes-derived testosterone and CAC.\r\n\r\nSerum levels of DHEA and testosterone are inversely associated with CAC in elderly men, partially independently from each other. These results raise the question whether androgens from both the adrenals and the testes may contribute to male cardiovascular health.", "doi": "10.1210/clinem/dgad351", "pmid": "37391895", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10655543"}, {"db": "pii", "key": "7194268"}], "notes": [], "created": "2023-11-30T22:35:21.935Z", "modified": "2023-11-30T22:37:15.060Z"}, {"entity": "publication", "iuid": "48e993c2629347268d9be56b60d91170", "links": {"self": {"href": "https://publications.scilifelab.se/publication/48e993c2629347268d9be56b60d91170.json"}, "display": {"href": "https://publications.scilifelab.se/publication/48e993c2629347268d9be56b60d91170"}}, "title": "An atlas of genetic determinants of forearm fracture.", "authors": [{"family": "Nethander", "given": "Maria", "initials": "M", "orcid": "0000-0003-3688-906X", "researcher": {"href": "https://publications.scilifelab.se/researcher/53d61951f51c4d40bef24672866382cb.json"}}, {"family": "Mov\u00e9rare-Skrtic", "given": "Sofia", "initials": "S", "orcid": "0000-0001-7982-7438", "researcher": {"href": "https://publications.scilifelab.se/researcher/936db54abf4f4d89894be2487b069a43.json"}}, {"family": "K\u00e4mpe", "given": "Anders", "initials": "A", "orcid": "0000-0002-1829-3855", "researcher": {"href": "https://publications.scilifelab.se/researcher/0785e17b57384962a0ff9bc7ecaa80c8.json"}}, {"family": "Coward", "given": "Eivind", "initials": "E"}, {"family": "Reimann", "given": "Ene", "initials": "E", "orcid": "0000-0002-5410-4433", "researcher": {"href": "https://publications.scilifelab.se/researcher/25325fa20b3940a6acd1ebd0a58629ef.json"}}, {"family": "Grahnemo", "given": "Louise", "initials": "L", "orcid": "0000-0001-5276-6612", "researcher": {"href": "https://publications.scilifelab.se/researcher/bb1ac8fe74954a5db43e8e6538cf8235.json"}}, {"family": "Borb\u00e9ly", "given": "\u00c9va", "initials": "\u00c9"}, {"family": "Helyes", "given": "Zsuzsanna", "initials": "Z"}, {"family": "Funck-Brentano", "given": "Thomas", "initials": "T"}, {"family": "Cohen-Solal", "given": "Martine", "initials": "M", "orcid": "0000-0002-8582-8258", "researcher": {"href": "https://publications.scilifelab.se/researcher/234da40c16104600ae44d9314a5a917c.json"}}, {"family": "Tuukkanen", "given": "Juha", "initials": "J", "orcid": "0000-0002-1723-6461", "researcher": {"href": "https://publications.scilifelab.se/researcher/0bf2583d5be5485ea26c200959d169fe.json"}}, {"family": "Koskela", "given": "Antti", "initials": "A"}, {"family": "Wu", "given": "Jianyao", "initials": "J"}, {"family": "Li", "given": "Lei", "initials": "L"}, {"family": "Lu", "given": "Tianyuan", "initials": "T", "orcid": "0000-0002-5664-5698", "researcher": {"href": "https://publications.scilifelab.se/researcher/b0594090a66d4cfc8907cac1f3983ba6.json"}}, {"family": "Gabrielsen", "given": "Maiken E", "initials": "ME"}, {"family": "Estonian Biobank Research Team", "given": "", "initials": ""}, {"family": "M\u00e4gi", "given": "Reedik", "initials": "R", "orcid": "0000-0002-2964-6011", "researcher": {"href": "https://publications.scilifelab.se/researcher/61f337c26b414b8fa30bf0fdb77368a1.json"}}, {"family": "Hoff", "given": "Mari", "initials": "M"}, {"family": "Lerner", "given": "Ulf H", "initials": "UH"}, {"family": "Henning", "given": "Petra", "initials": "P"}, {"family": "Ullum", "given": "Henrik", "initials": "H"}, {"family": "Erikstrup", "given": "Christian", "initials": "C", "orcid": "0000-0001-6551-6647", "researcher": {"href": "https://publications.scilifelab.se/researcher/06f338662f284c1a8ced09e79cb5776c.json"}}, {"family": "Brunak", "given": "S\u00f8ren", "initials": "S", "orcid": "0000-0003-0316-5866", "researcher": {"href": "https://publications.scilifelab.se/researcher/76fd1f30268c450092b654e25a5db4ee.json"}}, {"family": "DBDS Genomic Consortium", "given": "", "initials": ""}, {"family": "Langhammer", "given": "Arnulf", "initials": "A", "orcid": "0000-0001-5296-6673", "researcher": {"href": "https://publications.scilifelab.se/researcher/755b4b39d8054f2ea3e28476a7b0ae39.json"}}, {"family": "Tuomi", "given": "Tiinamaija", "initials": "T", "orcid": "0000-0002-8306-6202", "researcher": {"href": "https://publications.scilifelab.se/researcher/19f5ce9936ca454c85f0af966acac5c0.json"}}, {"family": "Oddsson", "given": "Asmundur", "initials": "A", "orcid": "0000-0002-4606-5163", "researcher": {"href": "https://publications.scilifelab.se/researcher/1ad931d32b674561906696db9edd200a.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Pettersson-Kymmer", "given": "Ulrika", "initials": "U"}, {"family": "Ostrowski", "given": "Sisse Rye", "initials": "SR", "orcid": "0000-0001-5288-3851", "researcher": {"href": "https://publications.scilifelab.se/researcher/c09b4c11e2a448319ce45bbf54967c56.json"}}, {"family": "Pedersen", "given": "Ole Birger Vesterager", "initials": "OBV", "orcid": "0000-0003-2312-5976", "researcher": {"href": "https://publications.scilifelab.se/researcher/52b22e351967462f92d9a5da484e9c38.json"}}, {"family": "Styrkarsdottir", "given": "Unnur", "initials": "U"}, {"family": "M\u00e4kitie", "given": "Outi", "initials": "O", "orcid": "0000-0002-4547-001X", "researcher": {"href": "https://publications.scilifelab.se/researcher/ce0614bdc717455b9af64a05ab4aa4aa.json"}}, {"family": "Hveem", "given": "Kristian", "initials": "K"}, {"family": "Richards", "given": "J Brent", "initials": "JB", "orcid": "0000-0002-3746-9086", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2c20c901fd041c194dae79b29b94ec2.json"}}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}], "type": "journal article", "published": "2023-11-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "issn-l": "1061-4036", "volume": "55", "issue": "11", "pages": "1820-1830"}, "abstract": "Osteoporotic fracture is among the most common and costly of diseases. While reasonably heritable, its genetic determinants have remained elusive. Forearm fractures are the most common clinically recognized osteoporotic fractures with a relatively high heritability. To establish an atlas of the genetic determinants of forearm fractures, we performed genome-wide association analyses including 100,026 forearm fracture cases. We identified 43 loci, including 26 new fracture loci. Although most fracture loci associated with bone mineral density, we also identified loci that primarily regulate bone quality parameters. Functional studies of one such locus, at TAC4, revealed that Tac4-/- mice have reduced mechanical bone strength. The strongest forearm fracture signal, at WNT16, displayed remarkable bone-site-specificity with no association with hip fractures. Tall stature and low body mass index were identified as new causal risk factors for fractures. The insights from this atlas may improve fracture prediction and enable therapeutic development to prevent fractures.", "doi": "10.1038/s41588-023-01527-3", "pmid": "37919453", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10632131"}, {"db": "pii", "key": "10.1038/s41588-023-01527-3"}], "notes": [], "created": "2023-11-30T22:35:15.914Z", "modified": "2023-11-30T22:36:12.879Z"}, {"entity": "publication", "iuid": "34ad4b4804274e6685480880f7336643", "links": {"self": {"href": "https://publications.scilifelab.se/publication/34ad4b4804274e6685480880f7336643.json"}, "display": {"href": "https://publications.scilifelab.se/publication/34ad4b4804274e6685480880f7336643"}}, "title": "Low Circulating Valine Associate With High Risk of Hip Fractures.", "authors": [{"family": "Grahnemo", "given": "Louise", "initials": "L", "orcid": "0000-0001-5276-6612", "researcher": {"href": "https://publications.scilifelab.se/researcher/bb1ac8fe74954a5db43e8e6538cf8235.json"}}, {"family": "Eriksson", "given": "Anna L", "initials": "AL", "orcid": "0000-0001-5455-2810", "researcher": {"href": "https://publications.scilifelab.se/researcher/538ab065918b4201a2689efc50d2ed2f.json"}}, {"family": "Nethander", "given": "Maria", "initials": "M", "orcid": "0000-0003-3688-906X", "researcher": {"href": "https://publications.scilifelab.se/researcher/53d61951f51c4d40bef24672866382cb.json"}}, {"family": "Johansson", "given": "Robert", "initials": "R"}, {"family": "Lorentzon", "given": "Mattias", "initials": "M", "orcid": "0000-0003-0749-1431", "researcher": {"href": "https://publications.scilifelab.se/researcher/237bc87456e3454082a93f0490c4d4c4.json"}}, {"family": "Mellstr\u00f6m", "given": "Dan", "initials": "D"}, {"family": "Pettersson-Kymmer", "given": "Ulrika", "initials": "U", "orcid": "0000-0002-0557-9803", "researcher": {"href": "https://publications.scilifelab.se/researcher/f3362b7a2ee34c8f9a52261eeb74d636.json"}}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}], "type": "meta-analysis", "published": "2023-10-18", "journal": {"title": "J. Clin. Endocrinol. Metab.", "issn": "1945-7197", "issn-l": "0021-972X", "volume": "108", "issue": "11", "pages": "e1384-e1393"}, "abstract": "Hip fractures constitute a major health concern. An adequate supply of amino acids is crucial to ensure optimal acquisition and remodeling of bone. Circulating amino acid levels have been proposed as markers of bone mineral density, but data on their ability to predict incident fractures are scarce.\r\n\r\nTo investigate the associations between circulating amino acids and incident fractures.\r\n\r\nWe used UK Biobank (n = 111 257; 901 hip fracture cases) as a discovery cohort and the Ume\u00e5 Fracture and Osteoporosis (UFO) hip fracture study (hip fracture cases n = 2225; controls n = 2225) for replication. Associations with bone microstructure parameters were tested in a subsample of Osteoporotic Fractures in Men Sweden (n = 449).\r\n\r\nCirculating valine was robustly associated with hip fractures in the UK Biobank (HR per SD increase 0.79, 95% CI 0.73-0.84), and this finding was replicated in the UFO study (combined meta-analysis including 3126 incident hip fracture cases, odds ratio per SD increase 0.84, 95% CI 0.80-0.88). Detailed bone microstructure analyses showed that high circulating valine was associated with high cortical bone area and trabecular thickness.\r\n\r\nLow circulating valine is a robust predictor of incident hip fractures. We propose that circulating valine may add information for hip fracture prediction. Future studies are warranted to determine whether low valine is causally associated with hip fractures.", "doi": "10.1210/clinem/dgad268", "pmid": "37178220", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10583993"}, {"db": "pii", "key": "7161698"}], "notes": [], "created": "2023-11-30T22:32:36.701Z", "modified": "2023-11-30T22:34:37.285Z"}, {"entity": "publication", "iuid": "f33c20d74f204c0e85888aad80e6bae6", "links": {"self": {"href": "https://publications.scilifelab.se/publication/f33c20d74f204c0e85888aad80e6bae6.json"}, "display": {"href": "https://publications.scilifelab.se/publication/f33c20d74f204c0e85888aad80e6bae6"}}, "title": "Genetic insights into resting heart rate and its role in cardiovascular disease.", "authors": [{"family": "van de Vegte", "given": "Yordi J", "initials": "YJ", "orcid": "0000-0002-6689-0144", "researcher": {"href": "https://publications.scilifelab.se/researcher/9edbd70a05e140da86f8a115a8cfa913.json"}}, {"family": "Eppinga", "given": "Ruben N", "initials": "RN"}, {"family": "van der Ende", "given": "M Yldau", "initials": "MY"}, {"family": "Hagemeijer", "given": "Yanick P", "initials": "YP", "orcid": "0000-0001-6036-3741", "researcher": {"href": "https://publications.scilifelab.se/researcher/f3c9fe93b0e04102b0298e2d08a7503c.json"}}, {"family": "Mahendran", "given": "Yuvaraj", "initials": "Y"}, {"family": "Salfati", "given": "Elias", "initials": "E"}, {"family": "Smith", "given": "Albert V", "initials": "AV", "orcid": "0000-0003-1942-5845", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b28739aa7d746718d670363d7c18a40.json"}}, {"family": "Tan", "given": "Vanessa Y", "initials": "VY"}, {"family": "Arking", "given": "Dan E", "initials": "DE"}, {"family": "Ntalla", "given": "Ioanna", "initials": "I"}, {"family": "Appel", "given": "Emil V", "initials": "EV"}, {"family": 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"Lakatta", "given": "Edward L M", "initials": "ELM", "orcid": "0000-0002-4772-0035", "researcher": {"href": "https://publications.scilifelab.se/researcher/bc797241e3fa45d7b9d8438568414f2a.json"}}, {"family": "Cheng", "given": "Ching-Yu", "initials": "C"}, {"family": "D\u00f6rr", "given": "Marcus", "initials": "M", "orcid": "0000-0001-7471-475X", "researcher": {"href": "https://publications.scilifelab.se/researcher/346fa1fbeb2e474b94f189d52d7cfb1c.json"}}, {"family": "Wong", "given": "Tien-Yin", "initials": "T"}, {"family": "Sabanayagam", "given": "Charumathi", "initials": "C", "orcid": "0000-0002-4042-4719", "researcher": {"href": "https://publications.scilifelab.se/researcher/a5ac2397f6b14194949f4dbb92a21eba.json"}}, {"family": "Oldehinkel", "given": "Albertine J", "initials": "AJ", "orcid": "0000-0003-3925-3913", "researcher": {"href": "https://publications.scilifelab.se/researcher/65ee5f9938f547bcbe51cbaf5fd7a9ba.json"}}, {"family": "Riese", "given": "Harriette", "initials": "H"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T", "orcid": "0000-0002-2555-4427", "researcher": {"href": "https://publications.scilifelab.se/researcher/03ed59707dae4c8fb9e63ac1f7c398e3.json"}}, {"family": "Verweij", "given": "Niek", "initials": "N"}, {"family": "van der Harst", "given": "Pim", "initials": "P"}], "type": "meta-analysis", "published": "2023-08-02", "journal": {"title": "Nat Commun", "issn": "2041-1723", "issn-l": "2041-1723", "volume": "14", "issue": "1", "pages": "4646"}, "abstract": "Resting heart rate is associated with cardiovascular diseases and mortality in observational and Mendelian randomization studies. The aims of this study are to extend the number of resting heart rate associated genetic variants and to obtain further insights in resting heart rate biology and its clinical consequences. A genome-wide meta-analysis of 100 studies in up to 835,465 individuals reveals 493 independent genetic variants in 352 loci, including 68 genetic variants outside previously identified resting heart rate associated loci. We prioritize 670 genes and in silico annotations point to their enrichment in cardiomyocytes and provide insights in their ECG signature. Two-sample Mendelian randomization analyses indicate that higher genetically predicted resting heart rate increases risk of dilated cardiomyopathy, but decreases risk of developing atrial fibrillation, ischemic stroke, and cardio-embolic stroke. We do not find evidence for a linear or non-linear genetic association between resting heart rate and all-cause mortality in contrast to our previous Mendelian randomization study. Systematic alteration of key differences between the current and previous Mendelian randomization study indicates that the most likely cause of the discrepancy between these studies arises from false positive findings in previous one-sample MR analyses caused by weak-instrument bias at lower P-value thresholds. The results extend our understanding of resting heart rate biology and give additional insights in its role in cardiovascular disease development.", "doi": "10.1038/s41467-023-39521-2", "pmid": "37532724", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10397318"}, {"db": "pii", "key": "10.1038/s41467-023-39521-2"}], "notes": [], "created": "2023-08-14T06:18:27.304Z", "modified": "2023-11-30T22:39:21.180Z"}, {"entity": "publication", "iuid": "818deda624df4b0f953c5d290a05ed4a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/818deda624df4b0f953c5d290a05ed4a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/818deda624df4b0f953c5d290a05ed4a"}}, "title": "Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.", "authors": [{"family": "Medina-Gomez", "given": "Carolina", "initials": "C", "orcid": "0000-0001-7999-5538", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1f97914d1c34f1f8190738c2d2e27b0.json"}}, {"family": "Mullin", "given": "Benjamin H", "initials": "BH", "orcid": "0000-0003-0743-770X", "researcher": {"href": "https://publications.scilifelab.se/researcher/fc36788ecbd64ce6a0d9ff3311c15e59.json"}}, {"family": "Chesi", "given": "Alessandra", "initials": "A"}, {"family": "Prijatelj", "given": "Vid", "initials": "V", "orcid": "0000-0002-9463-3962", "researcher": {"href": "https://publications.scilifelab.se/researcher/ac480b4f7b964169a845cceaac252420.json"}}, {"family": "Kemp", "given": "John P", "initials": "JP", "orcid": "0000-0002-9105-2249", "researcher": {"href": "https://publications.scilifelab.se/researcher/405cc434238b46b1984a2f1d9999e37a.json"}}, {"family": "Shochat-Carvalho", "given": "Chen", "initials": "C"}, {"family": "Trajanoska", "given": "Katerina", "initials": "K"}, {"family": "Wang", "given": "Carol", "initials": "C"}, {"family": "Joro", "given": "Raimo", "initials": "R"}, {"family": "Evans", "given": "Tavia E", "initials": "TE", "orcid": "0000-0003-2390-286X", "researcher": {"href": "https://publications.scilifelab.se/researcher/253058dc9f2d4cd8b041d9fbea739f58.json"}}, {"family": "Schraut", "given": "Katharina E", "initials": "KE"}, {"family": "Li-Gao", "given": "Ruifang", "initials": "R"}, {"family": "Ahluwalia", "given": "Tarunveer S", "initials": "TS", "orcid": "0000-0002-7464-3354", "researcher": {"href": "https://publications.scilifelab.se/researcher/2fde142189574b44a72155785763a327.json"}}, {"family": "Zillikens", "given": "M Carola", "initials": "MC", "orcid": "0000-0001-9186-3423", "researcher": {"href": "https://publications.scilifelab.se/researcher/8c71c257a4de4ac7b59381237a0fa500.json"}}, {"family": "Zhu", "given": "Kun", "initials": "K", "orcid": "0000-0002-8723-7574", 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"https://publications.scilifelab.se/researcher/354ccf94e95f40da96e61c89a0a60adb.json"}}, {"family": "B\u00f8nnelykke", "given": "Klaus", "initials": "K", "orcid": "0000-0003-2003-1018", "researcher": {"href": "https://publications.scilifelab.se/researcher/2e0992f23e69443c8bf08589711cb9b9.json"}}, {"family": "Uitterlinden", "given": "Andre G", "initials": "AG", "orcid": "0000-0002-7276-3387", "researcher": {"href": "https://publications.scilifelab.se/researcher/273577b238854023a9dffe34dabc3551.json"}}, {"family": "Styrk\u00e1rsd\u00f3ttir", "given": "Unnur", "initials": "U", "orcid": "0000-0001-8146-8278", "researcher": {"href": "https://publications.scilifelab.se/researcher/327b14e1055744e8976d926ddaa4d502.json"}}, {"family": "Akesson", "given": "Kristina E", "initials": "KE"}, {"family": "Spector", "given": "Timothy D", "initials": "TD", "orcid": "0000-0002-9795-0365", "researcher": {"href": "https://publications.scilifelab.se/researcher/9b3b149961364ccbb448a8cc3cdd6687.json"}}, {"family": "Tobias", "given": "Jonathan H", "initials": "JH"}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}, {"family": "Felix", "given": "Janine F", "initials": "JF", "orcid": "0000-0002-9801-5774", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a4482378cb24a9f832729f7004a41bf.json"}}, {"family": "Bisgaard", "given": "Hans", "initials": "H"}, {"family": "Grant", "given": "Struan F A", "initials": "SFA"}, {"family": "Richards", "given": "J Brent", "initials": "JB", "orcid": "0000-0002-3746-9086", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2c20c901fd041c194dae79b29b94ec2.json"}}, {"family": "Evans", "given": "David M", "initials": "DM", "orcid": "0000-0003-0663-4621", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b9b78a6c5b94bf18b798318935f62fd.json"}}, {"family": "van der Eerden", "given": "Bram", "initials": "B", "orcid": "0000-0003-4403-6497", "researcher": {"href": "https://publications.scilifelab.se/researcher/42514d51463941c5aad5083d181f0fe2.json"}}, {"family": "van de Peppel", "given": "Jeroen", "initials": "J"}, {"family": "Ackert-Bicknell", "given": "Cheryl", "initials": "C", "orcid": "0000-0003-4253-4775", "researcher": {"href": "https://publications.scilifelab.se/researcher/c843d9e827da46be81741184b57a4e38.json"}}, {"family": "Karasik", "given": "David", "initials": "D", "orcid": "0000-0002-8826-0530", "researcher": {"href": "https://publications.scilifelab.se/researcher/309cc98072424c52a29438620f03bfa0.json"}}, {"family": "Kague", "given": "Erika", "initials": "E", "orcid": "0000-0002-0266-9424", "researcher": {"href": "https://publications.scilifelab.se/researcher/cde5eaa107d04bb494e2567e66d75f71.json"}}, {"family": "Rivadeneira", "given": "Fernando", "initials": "F", "orcid": "0000-0001-9435-9441", "researcher": {"href": "https://publications.scilifelab.se/researcher/f8894904d3cf4671a2e563169829322a.json"}}], "type": "meta-analysis", "published": "2023-07-04", "journal": {"title": "Commun Biol", "issn": "2399-3642", "issn-l": "2399-3642", "volume": "6", "issue": "1", "pages": "691"}, "abstract": "Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured at other skeletal sites. We perform a genome-wide association meta-analysis (n ~ 43,800) of SK-BMD, identifying 59 loci, collectively explaining 12.5% of the trait variance. Association signals cluster within gene-sets involved in skeletal development and osteoporosis. Among the four novel loci (ZIC1, PRKAR1A, AZIN1/ATP6V1C1, GLRX3), there are factors implicated in intramembranous ossification and as we show, inherent to craniosynostosis processes. Functional follow-up in zebrafish confirms the importance of ZIC1 on cranial suture patterning. Likewise, we observe abnormal cranial bone initiation that culminates in ectopic sutures and reduced BMD in mosaic atp6v1c1 knockouts. Mosaic prkar1a knockouts present asymmetric bone growth and, conversely, elevated BMD. In light of this evidence linking SK-BMD loci to craniofacial abnormalities, our study provides new insight into the pathophysiology, diagnosis and treatment of skeletal diseases.", "doi": "10.1038/s42003-023-04869-0", "pmid": "37402774", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10319806"}, {"db": "pii", "key": "10.1038/s42003-023-04869-0"}], "notes": [], "created": "2023-11-30T22:35:09.520Z", "modified": "2023-11-30T22:36:33.714Z"}, {"entity": "publication", "iuid": "c4457596e25f4294b7de86e18511da65", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c4457596e25f4294b7de86e18511da65.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c4457596e25f4294b7de86e18511da65"}}, "title": "Overweight in childhood and young adulthood increases the risk for adult thromboembolic events.", "authors": [{"family": "Lilja", "given": "Lina", "initials": "L", "orcid": "0000-0003-2908-7456", "researcher": {"href": "https://publications.scilifelab.se/researcher/dbd8f5f9d6454648b700455cb1d64c91.json"}}, {"family": "Bygdell", "given": "Maria", "initials": "M"}, {"family": "Martikainen", "given": "Jari", "initials": "J"}, {"family": "Rosengren", "given": "Annika", "initials": "A", "orcid": "0000-0002-5409-6605", "researcher": {"href": "https://publications.scilifelab.se/researcher/59e4c8b35336454ab5f74df9c6b9531b.json"}}, {"family": "Kindblom", "given": "Jenny M", "initials": "JM"}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}], "type": "journal article", "published": "2023-05-00", "journal": {"title": "J. Intern. Med.", "issn": "1365-2796", "issn-l": "0954-6820", "volume": "293", "issue": "5", "pages": "615-623"}, "abstract": "Approximately one third of thromboembolic (TE) events are related to obesity, but to which extent elevated body mass index (BMI) during the distinct periods of childhood and puberty contributes is not known. We aimed to evaluate the impact of high BMI during childhood and puberty for the risk of adult venous and arterial thromboembolic events (VTE, ATE, respectively) in men.\r\n\r\nWe included 37,672 men from the BMI Epidemiology Study (BEST) Gothenburg with data on weight and height in childhood, young adult age, and on pubertal BMI change. Information on outcomes (VTE [n = 1683], ATE [n = 144], or any first TE event [VTE or ATE; n = 1780]) was retrieved from Swedish national registers. Hazard ratios (HR) and 95% confidence intervals (CI) were estimated by Cox regressions.\r\n\r\nBoth BMI at 8 years of age and the pubertal BMI change were associated with VTE, independently of each other (BMI at 8: HR 1.06 per standard deviation [SD] increase, 95% CI, 1.01;1.11; pubertal BMI change: HR 1.11 per SD increase, 95% CI, 1.06;1.16). Individuals with normal weight during childhood followed by young adult overweight (HR 1.40, 95% CI, 1.15;1.72), and individuals with overweight at both childhood and young adult age (HR 1.48, 95% CI, 1.14;1.92), had a significantly increased risk of VTE in adult life, compared with the normal weight reference group. Individuals with overweight in childhood and in young adult age had increased risk of ATE and TE.\r\n\r\nYoung adult overweight was a strong determinant, and childhood overweight a moderate determinant, of the risk of VTE in adult men.", "doi": "10.1111/joim.13617", "pmid": "36860115", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [], "notes": [], "created": "2023-06-16T15:03:24.996Z", "modified": "2023-11-30T22:36:52.306Z"}, {"entity": "publication", "iuid": "b04dac4df10a4c7091ec0ad6daefaba9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/b04dac4df10a4c7091ec0ad6daefaba9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/b04dac4df10a4c7091ec0ad6daefaba9"}}, "title": "Identification of three bacterial species associated with increased appendicular lean mass: the HUNT study.", "authors": [{"family": "Grahnemo", "given": "Louise", "initials": "L", "orcid": "0000-0001-5276-6612", "researcher": {"href": "https://publications.scilifelab.se/researcher/bb1ac8fe74954a5db43e8e6538cf8235.json"}}, {"family": "Nethander", "given": "Maria", "initials": "M", "orcid": "0000-0003-3688-906X", "researcher": {"href": "https://publications.scilifelab.se/researcher/53d61951f51c4d40bef24672866382cb.json"}}, {"family": "Coward", "given": "Eivind", "initials": "E"}, {"family": "Gabrielsen", "given": "Maiken Elvestad", "initials": "ME"}, {"family": "Sree", "given": "Satya", "initials": "S"}, {"family": "Billod", "given": "Jean-Marc", "initials": "J"}, {"family": "Sj\u00f6gren", "given": "Klara", "initials": "K"}, {"family": "Engstrand", "given": "Lars", "initials": "L"}, {"family": "Dekkers", "given": "Koen F", "initials": "KF", "orcid": "0000-0002-4074-7235", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee8d56ef781e42d5b6f21b551054a3e7.json"}}, {"family": "Fall", "given": "Tove", "initials": "T", "orcid": "0000-0003-2071-5866", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ed3f066719f43b291743a8bdaf3d2a0.json"}}, {"family": "Langhammer", "given": "Arnulf", "initials": "A"}, {"family": "Hveem", "given": "Kristian", "initials": "K"}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}], "type": "journal article", "published": "2023-04-20", "journal": {"title": "Nat Commun", "issn": "2041-1723", "issn-l": "2041-1723", "volume": "14", "issue": "1", "pages": "2250"}, "abstract": "Appendicular lean mass (ALM) associates with mobility and bone mineral density (BMD). While associations between gut microbiota composition and ALM have been reported, previous studies rely on relatively small sample sizes. Here, we determine the associations between prevalent gut microbes and ALM in large discovery and replication cohorts with information on relevant confounders within the population-based Norwegian HUNT cohort (n = 5196, including women and men). We show that the presence of three bacterial species - Coprococcus comes, Dorea longicatena, and Eubacterium ventriosum - are reproducibly associated with higher ALM. When combined into an anabolic species count, participants with all three anabolic species have 0.80 kg higher ALM than those without any. In an exploratory analysis, the anabolic species count is positively associated with femoral neck and total hip BMD. We conclude that the anabolic species count may be used as a marker of ALM and BMD. The therapeutic potential of these anabolic species to prevent sarcopenia and osteoporosis needs to be determined.", "doi": "10.1038/s41467-023-37978-9", "pmid": "37080991", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10119287"}, {"db": "pii", "key": "10.1038/s41467-023-37978-9"}], "notes": [], "created": "2023-06-16T15:12:34.469Z", "modified": "2023-11-30T22:34:44.953Z"}, {"entity": "publication", "iuid": "bd367ce6831a430682b8a2d14de5e2a9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/bd367ce6831a430682b8a2d14de5e2a9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/bd367ce6831a430682b8a2d14de5e2a9"}}, "title": "Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention.", "authors": [{"family": "Wang", "given": "Zhe", "initials": "Z", "orcid": "0000-0002-8046-4969", "researcher": {"href": "https://publications.scilifelab.se/researcher/e401edd738d14a0d923763273de128a2.json"}}, {"family": "Emmerich", "given": "Andrew", "initials": "A", "orcid": "0000-0002-0908-9924", "researcher": {"href": "https://publications.scilifelab.se/researcher/688f9a82f69b42cfa5bd9a8e9f8df20c.json"}}, {"family": "Pillon", "given": "Nicolas J", "initials": "NJ", "orcid": "0000-0003-1107-9490", "researcher": {"href": "https://publications.scilifelab.se/researcher/4b917d3e521149ec9d695c62ac2d1b85.json"}}, {"family": "Moore", "given": "Tim", "initials": "T", "orcid": "0000-0003-4250-3370", "researcher": {"href": "https://publications.scilifelab.se/researcher/9f2beb341b6b4b50a428a900836396c1.json"}}, {"family": "Hemerich", "given": "Daiane", "initials": "D"}, {"family": "Cornelis", "given": "Marilyn C", "initials": "MC"}, {"family": "Mazzaferro", "given": "Eugenia", "initials": "E"}, {"family": "Broos", "given": "Siacia", "initials": "S"}, {"family": "Ahluwalia", "given": "Tarunveer S", "initials": "TS"}, {"family": "Bartz", "given": "Traci M", "initials": "TM"}, {"family": "Bentley", "given": "Amy R", "initials": "AR"}, {"family": "Bielak", "given": "Lawrence F", "initials": "LF"}, {"family": "Chong", "given": "Mike", "initials": "M"}, {"family": "Chu", "given": "Audrey Y", "initials": "AY"}, {"family": "Berry", "given": "Diane", "initials": "D"}, {"family": "Dorajoo", "given": "Rajkumar", "initials": "R"}, {"family": "Dueker", "given": "Nicole D", "initials": "ND"}, {"family": "Kasbohm", "given": "Elisa", "initials": "E"}, {"family": "Feenstra", "given": "Bjarke", "initials": "B"}, {"family": "Feitosa", "given": "Mary F", "initials": "MF"}, {"family": "Gieger", "given": "Christian", "initials": "C"}, {"family": "Graff", "given": "Mariaelisa", "initials": "M"}, {"family": "Hall", "given": "Leanne M", "initials": "LM"}, {"family": "Haller", "given": "Toomas", "initials": "T"}, {"family": "Hartwig", "given": "Fernando P", "initials": "FP"}, {"family": "Hillis", "given": "David A", "initials": "DA"}, {"family": "Huikari", "given": "Ville", "initials": "V"}, {"family": "Heard-Costa", "given": "Nancy", "initials": "N"}, {"family": "Holzapfel", "given": "Christina", "initials": "C"}, {"family": "Jackson", "given": "Anne U", "initials": "AU"}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "J\u00f8rgensen", "given": "Anja Moltke", "initials": "AM"}, {"family": "Kaakinen", "given": "Marika A", "initials": "MA"}, {"family": "Karlsson", "given": "Robert", "initials": "R"}, {"family": "Kerr", "given": "Kathleen F", "initials": "KF"}, {"family": "Kim", "given": "Boram", "initials": "B"}, {"family": "Koolhaas", "given": "Chantal M", "initials": "CM"}, {"family": "Kutalik", "given": "Zoltan", "initials": "Z"}, {"family": "Lagou", "given": "Vasiliki", "initials": "V"}, {"family": "Lind", "given": "Penelope A", "initials": "PA"}, {"family": "Lorentzon", "given": "Mattias", "initials": "M"}, {"family": "Lyytik\u00e4inen", "given": "Leo-Pekka", "initials": "L"}, {"family": "Mangino", "given": "Massimo", "initials": "M"}, {"family": "Metzendorf", "given": "Christoph", "initials": "C"}, {"family": "Monroe", "given": "Kristine R", "initials": "KR"}, {"family": "Pacolet", "given": "Alexander", "initials": "A"}, {"family": "P\u00e9russe", "given": "Louis", "initials": "L"}, {"family": "Pool", "given": "Rene", "initials": "R"}, {"family": "Richmond", "given": "Rebecca C", "initials": "RC"}, {"family": "Rivera", "given": "Natalia V", "initials": "NV"}, {"family": "Robiou-du-Pont", "given": "Sebastien", "initials": "S"}, {"family": "Schraut", "given": "Katharina E", "initials": "KE"}, {"family": "Schulz", "given": "Christina-Alexandra", "initials": "C"}, {"family": "Stringham", "given": "Heather M", "initials": "HM"}, {"family": "Tanaka", "given": "Toshiko", "initials": "T"}, {"family": "Teumer", "given": "Alexander", "initials": "A"}, {"family": "Turman", "given": "Constance", "initials": "C"}, {"family": "van der Most", "given": "Peter J", "initials": "PJ"}, {"family": "Vanmunster", "given": "Mathias", "initials": "M"}, {"family": "van Rooij", "given": "Frank J A", "initials": "FJA"}, {"family": "van Vliet-Ostaptchouk", "given": "Jana V", "initials": "JV"}, {"family": "Zhang", "given": "Xiaoshuai", "initials": "X"}, {"family": "Zhao", "given": "Jing-Hua", "initials": "J"}, {"family": "Zhao", "given": "Wei", "initials": "W"}, {"family": "Balkhiyarova", "given": "Zhanna", "initials": "Z"}, {"family": "Balslev-Harder", "given": "Marie N", "initials": "MN"}, {"family": "Baumeister", "given": "Sebastian E", "initials": "SE"}, {"family": "Beilby", "given": "John", "initials": "J"}, {"family": "Blangero", "given": "John", "initials": "J"}, {"family": "Boomsma", "given": "Dorret I", "initials": "DI"}, {"family": "Brage", "given": "Soren", "initials": "S"}, {"family": "Braund", "given": "Peter S", "initials": "PS"}, {"family": "Brody", "given": "Jennifer A", "initials": "JA"}, {"family": "Bruinenberg", "given": "Marcel", "initials": "M"}, {"family": "Ekelund", "given": "Ulf", "initials": "U"}, {"family": "Liu", "given": "Ching-Ti", "initials": "C"}, {"family": "Cole", "given": "John W", "initials": "JW"}, {"family": "Collins", "given": "Francis S", "initials": "FS"}, {"family": "Cupples", "given": "L Adrienne", "initials": "LA"}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T"}, {"family": "Enroth", "given": "Stefan", "initials": "S"}, {"family": "Faul", "given": "Jessica D", "initials": "JD"}, {"family": "Fernandez-Rhodes", "given": "Lindsay", "initials": "L"}, {"family": "Fohner", "given": "Alison E", "initials": "AE"}, {"family": "Franco", "given": "Oscar H", "initials": "OH"}, {"family": "Galesloot", "given": "Tessel E", "initials": "TE"}, {"family": "Gordon", "given": "Scott D", "initials": "SD"}, {"family": "Grarup", "given": "Niels", "initials": "N"}, {"family": "Hartman", "given": "Catharina A", "initials": 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"https://publications.scilifelab.se/researcher/f90b7cfe829845fb8cbea9558a5c82a7.json"}}, {"family": "Wichmann", "given": "Heinz-Erich", "initials": "H"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications.scilifelab.se/researcher/b39e6e0f7210494cb4f80be0f7413b6f.json"}}, {"family": "Hevener", "given": "Andrea L", "initials": "AL"}, {"family": "Krook", "given": "Anna", "initials": "A", "orcid": "0000-0002-0891-0258", "researcher": {"href": "https://publications.scilifelab.se/researcher/f43339bcd571486b845a3b10e241bcc4.json"}}, {"family": "Zierath", "given": "Juleen R", "initials": "JR", "orcid": "0000-0001-6891-7497", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4ef2b94ba2d44dd9b41192567a7af53.json"}}, {"family": "Thomis", "given": "Martine A I", "initials": "MAI", "orcid": "0000-0001-9093-2191", "researcher": {"href": "https://publications.scilifelab.se/researcher/b384f177ea8b4792815212b9221eb8ac.json"}}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications.scilifelab.se/researcher/e5b6c24c302d42828806076ded81afe1.json"}}, {"family": "Hoed", "given": "Marcel den", "initials": "Md", "orcid": "0000-0001-8081-428X", "researcher": {"href": "https://publications.scilifelab.se/researcher/d712cc087d344b15ab9a7971640acebe.json"}}], "type": "journal article", "published": "2022-09-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "issn-l": "1061-4036", "volume": "54", "issue": "9", "pages": "1332-1344"}, "abstract": "Although physical activity and sedentary behavior are moderately heritable, little is known about the mechanisms that influence these traits. Combining data for up to 703,901 individuals from 51 studies in a multi-ancestry meta-analysis of genome-wide association studies yields 99 loci that associate with self-reported moderate-to-vigorous intensity physical activity during leisure time (MVPA), leisure screen time (LST) and/or sedentary behavior at work. Loci associated with LST are enriched for genes whose expression in skeletal muscle is altered by resistance training. A missense variant in ACTN3 makes the alpha-actinin-3 filaments more flexible, resulting in lower maximal force in isolated type IIA muscle fibers, and possibly protection from exercise-induced muscle damage. Finally, Mendelian randomization analyses show that beneficial effects of lower LST and higher MVPA on several risk factors and diseases are mediated or confounded by body mass index (BMI). Our results provide insights into physical activity mechanisms and its role in disease prevention.", "doi": "10.1038/s41588-022-01165-1", "pmid": "36071172", "labels": {"NGI Uppsala (Uppsala Genome Center)": "Collaborative", "National Genomics Infrastructure": "Collaborative"}, "xrefs": [{"db": "pii", "key": "10.1038/s41588-022-01165-1"}, {"db": "pmc", "key": "PMC9470530"}], "notes": [], "created": "2022-11-21T10:36:10.226Z", "modified": "2022-11-21T10:39:04.271Z"}, {"entity": "publication", "iuid": "b36ec5685a9444759a04a6284c56597c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/b36ec5685a9444759a04a6284c56597c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/b36ec5685a9444759a04a6284c56597c"}}, "title": "Birth weight and young adult body mass index for predicting the risk of developing adult heart failure in men.", "authors": [{"family": "Bygdell", "given": "Maria", "initials": "M", "orcid": "0000-0002-0737-8642", "researcher": {"href": "https://publications.scilifelab.se/researcher/b54e9b05bcb74e4a91a4e9cfcdf187aa.json"}}, {"family": "Ohlsson", "given": "Claes", "initials": "C", "orcid": "0000-0002-9633-2805", "researcher": {"href": "https://publications.scilifelab.se/researcher/995dac358caa4a169fc889b7a3eef44a.json"}}, {"family": "Lilja", "given": "Lina", "initials": "L"}, {"family": "Celind", "given": "Jimmy", "initials": "J", "orcid": "0000-0002-2885-3860", "researcher": {"href": "https://publications.scilifelab.se/researcher/1a2f7457e3b149309795d155d1a5b8fb.json"}}, {"family": "Martikainen", "given": "Jari", "initials": "J"}, {"family": "Rosengren", "given": "Annika", "initials": "A"}, {"family": "Kindblom", "given": "Jenny M", "initials": "JM"}], "type": "journal article", "published": "2022-05-06", "journal": {"title": "Eur J Prev Cardiol", "issn": "2047-4881", "issn-l": "2047-4873", "volume": "29", "issue": "6", "pages": "971-978"}, "abstract": "Hospitalizations for heart failure among young adults and middle-aged individuals have increased. The aims of the present study were to evaluate the association between birth weight and risk of adult heart failure and the importance of change from low birth weight to overweight/obesity at young adulthood.\r\n\r\nWe used the population-based body mass index (BMI) Epidemiology Study cohort Gothenburg (n = 35 659) with birth weight and young adult BMI (20 years) available from child healthcare records, school health records, and military conscription register for men born 1945-1961. The cohort includes all children who finished school, which was mandatory, in Gothenburg, Sweden. Information on heart failure diagnosis was retrieved from the National Patient Register and the Cause of Death Register (n = 415). In cox regression analyses, there was an inverse association between birth weight and risk of heart failure [hazard ratio (HR) 0.83 per standard deviation (SD), 95% confidence interval (CI) 0.76-0.90], and a direct association for young adult BMI (HR 1.48 per SD, 95% CI 1.36-1.61). Of note, individuals with birth weight in the lowest tertile, who were overweight/obese in young adulthood had a five-fold risk of heart failure (HR 4.95, 95% CI 3.36-7.31) compared with individuals in the middle birth weight tertile who were normal weight at 20 years.\r\n\r\nBirth weight was inversely associated with the risk of hospitalization due to heart failure. The combination of low birth weight and overweight/obesity in young adulthood results in excess risk of heart failure beyond that of low birth weight or young adult overweight/obesity separately. These findings indicate the need of a life course perspective in heart failure prevention and risk assessment.", "doi": "10.1093/eurjpc/zwab186", "pmid": "34910135", "labels": {"Clinical Genomics Gothenburg": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pii", "key": "6463023"}], "notes": [], "created": "2022-12-02T12:22:49.422Z", "modified": "2023-05-15T16:35:20.941Z"}]}