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"https://publications-affiliated.scilifelab.se/researcher/5b41e3ece7d3475c821424ec9e04fbd5.json"}}, {"family": "Riese", "given": "Harriette", "initials": "H"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T", "orcid": "0000-0002-2555-4427", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/74306ef9629647f7a0297b890df37cd0.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", "volume": "14", "issue": "1", "pages": "4646", "issn-l": "2041-1723"}, "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": [], "xrefs": [{"db": "pmc", "key": "PMC10397318"}, {"db": "pii", "key": "10.1038/s41467-023-39521-2"}], "notes": [], "created": "2026-09-23T09:01:39.863Z", "modified": "2026-09-23T09:01:42.602Z"}, {"entity": "publication", "iuid": "9543399bd40548ba8e729eaf5e9d229c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9543399bd40548ba8e729eaf5e9d229c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9543399bd40548ba8e729eaf5e9d229c"}}, "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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"https://publications-affiliated.scilifelab.se/researcher/0706f9fec8d14cfe88cc03e6c7bf06e3.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-affiliated.scilifelab.se/researcher/1a40a959d1b8480cb8268e00f77a0449.json"}}, {"family": "Timpson", "given": "Nicholas J", "initials": "NJ", "orcid": "0000-0002-7141-9189", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4746ddba0e7f40a5af1e2fee8c7b6b7c.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-affiliated.scilifelab.se/researcher/931a239e555b4448b03a9d44170d3c3f.json"}}, {"family": "Vollenweider", "given": "Peter", "initials": "P"}, {"family": "Wang", "given": "Carol A", "initials": "CA", "orcid": "0000-0002-4301-3974", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4c220c449da54501bfec3d746b246ef2.json"}}, {"family": "Weir", "given": "David R", "initials": "DR", "orcid": "0000-0002-1661-2402", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4105b31d72044f76bfd07ca12a274569.json"}}, {"family": "Whitfield", "given": "John B", "initials": "JB", "orcid": "0000-0002-1103-0876", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/03a80330db9147cc873b7e5cbee3ebaa.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-affiliated.scilifelab.se/researcher/d6fa8b01df9f4bf68607603c51c5a106.json"}}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG", "orcid": "0000-0002-7276-3387", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aee3acd4781c4c678184783464f77f1d.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-affiliated.scilifelab.se/researcher/179eb6511eba4d33b633599c5652e344.json"}}, {"family": "Franceschini", "given": "Nora", "initials": "N"}, {"family": "Franke", "given": "Lude", "initials": "L", "orcid": "0000-0002-5159-8802", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e0a825c1d31c458e872fa6c79d30f02e.json"}}, {"family": "Haley", "given": "Chris S", "initials": "CS", "orcid": "0000-0002-9811-0210", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/328821d953534bf0b41867cb7f6aba9d.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/542b00d650124ce4a3776ae95571e2c1.json"}}, {"family": "Walters", "given": "Robin G", "initials": "RG", "orcid": "0000-0002-9179-0321", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4c4c1c5209be401c91b60553e49c282c.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-affiliated.scilifelab.se/researcher/67a2c02915a5435d8ff7e148eeab9cc8.json"}}, {"family": "Kubo", "given": "Michiaki", "initials": "M"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/513b6983cc9d478ab9d81c2f21579961.json"}}], "type": "journal article", "published": "2019-10-31", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "10", "issue": "1", "pages": "4957", "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": [], "xrefs": [{"db": "pmc", "key": "PMC6823371"}, {"db": "pii", "key": "10.1038/s41467-019-12283-6"}], "notes": [], "created": "2026-09-23T06:47:16.186Z", "modified": "2026-09-23T06:47:19.313Z"}, {"entity": "publication", "iuid": "1da9cc1b6ce34ee58742e3125ffc39ca", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1da9cc1b6ce34ee58742e3125ffc39ca.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1da9cc1b6ce34ee58742e3125ffc39ca"}}, "title": "Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.", "authors": [{"family": "Turcot", "given": "Val\u00e9rie", "initials": "V"}, {"family": "Lu", "given": "Yingchang", "initials": "Y"}, {"family": "Highland", "given": "Heather M", "initials": "HM"}, {"family": "Schurmann", "given": "Claudia", "initials": "C", "orcid": "0000-0003-4158-9192", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2ad5e5cf1d3148b495830a8d4507c72b.json"}}, {"family": "Justice", "given": "Anne E", "initials": "AE", "orcid": "0000-0002-8903-8712", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2bbbd25c5e044cb0b8d6c94dc9ad2f0b.json"}}, {"family": "Fine", "given": "Rebecca S", "initials": "RS"}, {"family": "Bradfield", "given": "Jonathan P", "initials": "JP"}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T"}, {"family": "Giri", "given": "Ayush", "initials": "A", "orcid": "0000-0002-7786-4670", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/424e945c81e14434a13205bdd2e986ac.json"}}, {"family": "Graff", "given": "Mariaelisa", "initials": "M"}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Hendricks", "given": "Audrey E", "initials": "AE"}, {"family": "Karaderi", "given": "Tugce", "initials": "T"}, {"family": "Lempradl", "given": "Adelheid", "initials": "A"}, {"family": "Locke", "given": "Adam E", "initials": "AE", "orcid": "0000-0001-6227-198X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2acdb3f67772472ea95cb2316e006555.json"}}, {"family": "Mahajan", "given": "Anubha", "initials": "A"}, {"family": "Marouli", "given": "Eirini", "initials": "E"}, {"family": "Sivapalaratnam", "given": "Suthesh", "initials": "S"}, {"family": "Young", "given": "Kristin L", "initials": "KL", "orcid": "0000-0003-0070-6145", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a317f8776f149dabff61ef11aab6d74.json"}}, {"family": "Alfred", "given": "Tamuno", "initials": "T"}, {"family": "Feitosa", "given": "Mary F", "initials": "MF"}, {"family": "Masca", "given": "Nicholas G D", "initials": "NGD"}, {"family": "Manning", "given": "Alisa K", "initials": "AK"}, {"family": "Medina-Gomez", "given": "Carolina", "initials": "C", "orcid": "0000-0001-7999-5538", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81b3600248dc46fda07e549541aa047c.json"}}, {"family": "Mudgal", "given": "Poorva", "initials": "P"}, {"family": "Ng", "given": "Maggie C Y", "initials": "MCY"}, {"family": "Reiner", "given": "Alex P", "initials": "AP"}, {"family": "Vedantam", "given": "Sailaja", "initials": "S"}, {"family": "Willems", "given": "Sara M", "initials": "SM"}, {"family": "Winkler", "given": "Thomas W", "initials": "TW", "orcid": "0000-0003-0292-5421", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b1511736ab1f4f3cab1a2ccef342db34.json"}}, {"family": "Abecasis", "given": "Gon\u00e7alo", "initials": "G"}, {"family": "Aben", "given": "Katja K", "initials": "KK"}, {"family": "Alam", "given": "Dewan S", "initials": "DS"}, 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Scientific Group", "given": "", "initials": ""}], "type": "journal article", "published": "2018-05-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "50", "issue": "5", "pages": "766-767", "issn-l": "1061-4036"}, "abstract": "In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA) was incorrectly assigned to author Wei Zhou. The errors have been corrected in the HTML and PDF versions of the article.", "doi": "10.1038/s41588-018-0082-3", "pmid": "29549330", "labels": [], "xrefs": [{"db": "pii", "key": "10.1038/s41588-018-0082-3"}], "notes": [], "created": "2026-09-23T13:50:40.609Z", "modified": "2026-09-23T13:50:40.716Z"}, {"entity": "publication", "iuid": "c032a968652c4d4986098086c4bed776", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/c032a968652c4d4986098086c4bed776.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/c032a968652c4d4986098086c4bed776"}}, "title": "Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.", "authors": [{"family": "Turcot", "given": "Val\u00e9rie", "initials": "V"}, {"family": "Lu", "given": "Yingchang", "initials": "Y"}, {"family": "Highland", "given": "Heather M", "initials": "HM"}, {"family": 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"https://publications-affiliated.scilifelab.se/researcher/d30173f309c3460b80b698c8b89c5827.json"}}, {"family": "CHD Exome+ Consortium", "given": "", "initials": ""}, {"family": "EPIC-CVD Consortium", "given": "", "initials": ""}, {"family": "ExomeBP Consortium", "given": "", "initials": ""}, {"family": "Global Lipids Genetic Consortium", "given": "", "initials": ""}, {"family": "GoT2D Genes Consortium", "given": "", "initials": ""}, {"family": "EPIC\u00a0InterAct\u00a0Consortium", "given": "", "initials": ""}, {"family": "INTERVAL Study", "given": "", "initials": ""}, {"family": "ReproGen Consortium", "given": "", "initials": ""}, {"family": "T2D-Genes Consortium", "given": "", "initials": ""}, {"family": "MAGIC Investigators", "given": "", "initials": ""}, {"family": "Understanding Society Scientific Group", "given": "", "initials": ""}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Pospisilik", "given": "John A", "initials": "JA", "orcid": "0000-0002-9745-0977", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/14d3d158e450498cb3900c4e4cab5c01.json"}}, {"family": "Rivadeneira", "given": "Fernando", "initials": "F", "orcid": "0000-0001-9435-9441", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/052747cd28af4c308b064e88005985a2.json"}}, {"family": "Borecki", "given": "Ingrid B", "initials": "IB"}, {"family": "Deloukas", "given": "Panos", "initials": "P", "orcid": "0000-0001-9251-070X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d034d0cd32a84b959bd29f8ef8c91979.json"}}, {"family": "Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "Lettre", "given": "Guillaume", "initials": "G"}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM"}, {"family": "Hirschhorn", "given": "Joel N", "initials": "JN"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF"}], "type": "journal article", "published": "2018-01-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "50", "issue": "1", "pages": "26-41", "issn-l": "1061-4036"}, "abstract": "Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.", "doi": "10.1038/s41588-017-0011-x", "pmid": "29273807", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS920811"}, {"db": "pmc", "key": "PMC5945951"}, {"db": "pii", "key": "10.1038/s41588-017-0011-x"}], "notes": [], "created": "2018-12-05T11:24:59.969Z", "modified": "2026-09-23T06:34:04.318Z"}, {"entity": "publication", "iuid": "3319ed3faaa04b37904ac096febd0936", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/3319ed3faaa04b37904ac096febd0936.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/3319ed3faaa04b37904ac096febd0936"}}, "title": "Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.", 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"given": "Caroline S", "initials": "CS"}, {"family": "Hirschhorn", "given": "Joel N", "initials": "JN"}, {"family": "Hunter", "given": "David J", "initials": "DJ"}, {"family": "Spector", "given": "Tim D", "initials": "TD"}, {"family": "Strachan", "given": "David P", "initials": "DP", "orcid": "0000-0001-7854-1366", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d43385a350914b0a843fb49008d108b0.json"}}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Heid", "given": "Iris M", "initials": "IM"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL", "orcid": "0000-0001-6721-153X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fac0e041c56347fe98cef9ae8f004b67.json"}}, {"family": "Marchini", "given": "Jonathan", "initials": "J", "orcid": "0000-0003-0610-8322", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a7d0d3e23a76434098fa7731ac294cd1.json"}}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF"}, {"family": "Kilpel\u00e4inen", "given": "Tuomas O", "initials": "TO"}, {"family": "Liu", "given": "Ching-Ti", "initials": "CT", "orcid": "0000-0002-0703-0742", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0df836bc876845a6af66828561f24a27.json"}}, {"family": "Borecki", "given": "Ingrid B", "initials": "IB"}, {"family": "North", "given": "Kari E", "initials": "KE"}, {"family": "Cupples", "given": "L Adrienne", "initials": "LA"}], "type": "journal article", "published": "2017-04-26", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "8", "issue": null, "pages": "14977", "issn-l": "2041-1723"}, "abstract": "Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.", "doi": "10.1038/ncomms14977", "pmid": "28443625", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5414044"}, {"db": "pii", "key": "ncomms14977"}], "notes": [], "created": "2018-12-05T09:47:57.139Z", "modified": "2026-09-23T06:42:25.568Z"}, {"entity": "publication", "iuid": "abac6fc3e8b540a2974022d6667091f5", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/abac6fc3e8b540a2974022d6667091f5.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/abac6fc3e8b540a2974022d6667091f5"}}, "title": "Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.", "authors": [{"family": "Wain", "given": "Louise V", "initials": "LV", "orcid": "0000-0003-4951-1867", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/20f57de56b794e269d73d41b939a7de3.json"}}, {"family": "Shrine", "given": "Nick", "initials": "N"}, {"family": "Artigas", "given": "Mar\u00eda Soler", "initials": "MS"}, {"family": "Erzurumluoglu", "given": "A Mesut", "initials": "AM", "orcid": "0000-0003-1322-8138", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2e60c36bc37a40f8a85ec4175a8a7dca.json"}}, {"family": "Noyvert", "given": "Boris", "initials": "B"}, {"family": "Bossini-Castillo", "given": "Lara", "initials": "L"}, {"family": "Obeidat", "given": "Ma'en", "initials": "M", "orcid": "0000-0002-5443-2752", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/422fc72fc8e54948af2939fb8ff12d1e.json"}}, {"family": "Henry", "given": "Amanda P", "initials": "AP"}, {"family": "Portelli", "given": "Michael A", "initials": "MA"}, {"family": "Hall", "given": "Robert J", "initials": "RJ"}, {"family": "Billington", "given": "Charlotte K", "initials": "CK"}, {"family": "Rimington", "given": "Tracy L", "initials": "TL"}, {"family": "Fenech", "given": "Anthony G", "initials": "AG", "orcid": "0000-0002-7654-8828", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/873b3d8067b741df9665a2b8fc968c39.json"}}, {"family": "John", "given": "Catherine", "initials": "C"}, {"family": "Blake", "given": "Tineka", "initials": "T"}, {"family": "Jackson", "given": "Victoria E", "initials": "VE"}, {"family": "Allen", "given": "Richard J", "initials": "RJ"}, {"family": "Prins", "given": "Bram P", "initials": "BP"}, {"family": "Understanding Society Scientific Group", "given": "", "initials": ""}, {"family": "Campbell", "given": "Archie", "initials": "A", "orcid": "0000-0003-0198-5078", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0727bde0027c4a8a9d2737bb486f1bad.json"}}, {"family": "Porteous", "given": "David J", "initials": "DJ"}, {"family": "Jarvelin", "given": "Marjo-Riitta", "initials": "MR"}, {"family": "Wielscher", "given": "Matthias", "initials": "M"}, {"family": "James", "given": "Alan L", "initials": "AL"}, {"family": "Hui", "given": "Jennie", "initials": "J"}, {"family": "Wareham", "given": "Nicholas J", "initials": "NJ"}, {"family": "Zhao", "given": "Jing Hua", "initials": "JH"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/513b6983cc9d478ab9d81c2f21579961.json"}}, {"family": "Joshi", "given": "Peter K", "initials": "PK", "orcid": "0000-0002-6361-5059", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/67a2c02915a5435d8ff7e148eeab9cc8.json"}}, {"family": "Stubbe", "given": "Beate", "initials": "B"}, {"family": "Rawal", "given": "Rajesh", "initials": "R"}, {"family": "Schulz", "given": "Holger", "initials": "H"}, {"family": "Imboden", "given": "Medea", "initials": "M"}, {"family": "Probst-Hensch", "given": "Nicole M", "initials": "NM"}, {"family": "Karrasch", "given": "Stefan", "initials": "S"}, {"family": "Gieger", "given": "Christian", "initials": "C"}, {"family": "Deary", "given": "Ian J", "initials": "IJ"}, {"family": "Harris", "given": "Sarah E", "initials": "SE"}, {"family": "Marten", "given": "Jonathan", "initials": "J"}, {"family": "Rudan", "given": "Igor", "initials": "I", "orcid": "0000-0001-6993-6884", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5c9e99f2bcc74658ae0bcffca0a0abee.json"}}, {"family": "Enroth", "given": "Stefan", "initials": "S", "orcid": "0000-0002-5056-9137", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae9be8ef3b1145239a4e0231e2a148cd.json"}}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Kerr", "given": "Shona M", "initials": "SM"}, {"family": "Polasek", "given": "Ozren", "initials": "O"}, {"family": "K\u00e4h\u00f6nen", "given": "Mika", "initials": "M"}, {"family": "Surakka", "given": "Ida", "initials": "I"}, {"family": "Vitart", "given": "Veronique", "initials": "V"}, {"family": "Hayward", "given": "Caroline", "initials": "C"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T"}, {"family": "Raitakari", "given": "Olli T", "initials": "OT"}, {"family": "Evans", "given": "David M", "initials": "DM"}, {"family": "Henderson", "given": "A John", "initials": "AJ"}, {"family": "Pennell", "given": "Craig E", "initials": "CE"}, {"family": "Wang", "given": "Carol A", "initials": "CA"}, {"family": "Sly", "given": "Peter D", "initials": "PD", "orcid": "0000-0001-6305-2201", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/974e54c4029e4c1c992a8dd186495bac.json"}}, {"family": "Wan", "given": "Emily S", "initials": "ES"}, {"family": "Busch", "given": "Robert", "initials": "R", "orcid": "0000-0003-0820-7164", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d5db40b6620c43418d1b98a1f545a1ad.json"}}, {"family": "Hobbs", "given": "Brian D", "initials": "BD", "orcid": "0000-0001-9564-0745", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d8a9e4dfd9044e2b9916206b979349cd.json"}}, {"family": "Litonjua", "given": "Augusto A", "initials": "AA"}, {"family": "Sparrow", "given": "David W", "initials": "DW"}, {"family": "Gulsvik", "given": "Amund", "initials": "A"}, {"family": "Bakke", "given": "Per S", "initials": "PS"}, {"family": "Crapo", "given": "James D", "initials": "JD"}, {"family": "Beaty", "given": "Terri H", "initials": "TH"}, {"family": "Hansel", "given": "Nadia N", "initials": "NN"}, {"family": "Mathias", "given": "Rasika A", "initials": "RA"}, {"family": "Ruczinski", "given": "Ingo", "initials": "I"}, {"family": "Barnes", "given": "Kathleen C", "initials": "KC"}, {"family": "Boss\u00e9", "given": "Yohan", "initials": "Y", "orcid": "0000-0002-3067-3711", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4caf04b2cda04759b9d2b066ddae6de7.json"}}, {"family": "Joubert", "given": "Philippe", "initials": "P"}, {"family": "van den Berge", "given": "Maarten", "initials": "M"}, {"family": "Brandsma", "given": "Corry-Anke", "initials": "CA"}, {"family": "Par\u00e9", "given": "Peter D", "initials": "PD"}, {"family": "Sin", "given": "Don D", "initials": "DD"}, {"family": "Nickle", "given": "David C", "initials": "DC"}, {"family": "Hao", "given": "Ke", "initials": "K"}, {"family": "Gottesman", "given": "Omri", "initials": "O"}, {"family": "Dewey", "given": "Frederick E", "initials": "FE"}, {"family": "Bruse", "given": "Shannon E", "initials": "SE", "orcid": "0000-0002-3037-6266", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c39038a5e3104aef94843276344c70fd.json"}}, {"family": "Carey", "given": "David J", "initials": "DJ"}, {"family": "Kirchner", "given": "H Lester", "initials": "HL"}, {"family": "Geisinger-Regeneron DiscovEHR Collaboration", "given": "", "initials": ""}, {"family": "Jonsson", "given": "Stefan", "initials": "S"}, {"family": "Thorleifsson", "given": "Gudmar", "initials": "G"}, {"family": "Jonsdottir", "given": "Ingileif", "initials": "I", "orcid": "0000-0001-8339-150X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f4e82de44504a55b50b0378447318f8.json"}}, {"family": "Gislason", "given": "Thorarinn", "initials": "T"}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Schurmann", "given": "Claudia", "initials": "C", "orcid": "0000-0003-4158-9192", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2ad5e5cf1d3148b495830a8d4507c72b.json"}}, {"family": "Nadkarni", "given": "Girish", "initials": "G"}, {"family": "Bottinger", "given": "Erwin P", "initials": "EP"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJ"}, {"family": "Walters", "given": "Robin G", "initials": "RG", "orcid": "0000-0002-9179-0321", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4c4c1c5209be401c91b60553e49c282c.json"}}, {"family": "Chen", "given": "Zhengming", "initials": "Z"}, {"family": "Millwood", "given": "Iona Y", "initials": "IY"}, {"family": "Vaucher", "given": "Julien", "initials": "J", "orcid": "0000-0002-3230-3693", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b67a0833bd1e4e8da75daf0e21417d67.json"}}, {"family": "Kurmi", "given": "Om P", "initials": "OP"}, {"family": "Li", "given": "Liming", "initials": "L"}, {"family": "Hansell", "given": "Anna L", "initials": "AL"}, {"family": "Brightling", "given": "Chris", "initials": "C"}, {"family": "Zeggini", "given": "Eleftheria", "initials": "E", "orcid": "0000-0003-4238-659X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/94df27518bb34428a8b1f8f2b278d778.json"}}, {"family": "Cho", "given": "Michael H", "initials": "MH", "orcid": "0000-0002-4907-1657", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a80666dedf27482ba21cd3861ca1328d.json"}}, {"family": "Silverman", "given": "Edwin K", "initials": "EK"}, {"family": "Sayers", "given": "Ian", "initials": "I", "orcid": "0000-0001-5601-5410", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3049c404988b4945b79fbdcaabc9c326.json"}}, {"family": "Trynka", "given": "Gosia", "initials": "G", "orcid": "0000-0002-6955-9529", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/22558d9cbf844bf6bd0063c2dde6f513.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Strachan", "given": "David P", "initials": "DP", "orcid": "0000-0001-7854-1366", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d43385a350914b0a843fb49008d108b0.json"}}, {"family": "Hall", "given": "Ian P", "initials": "IP"}, {"family": "Tobin", "given": "Martin D", "initials": "MD", "orcid": "0000-0002-3596-7874", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2ba839a0d60d412f84088e9320dc1ae5.json"}}], "type": "journal article", "published": "2017-03-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "49", "issue": "3", "pages": "416-425", "issn-l": "1061-4036"}, "abstract": "Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function and is the third leading cause of death globally. Through genome-wide association discovery in 48,943 individuals, selected from extremes of the lung function distribution in UK Biobank, and follow-up in 95,375 individuals, we increased the yield of independent signals for lung function from 54 to 97. A genetic risk score was associated with COPD susceptibility (odds ratio per 1 s.d. of the risk score (\u223c6 alleles) (95% confidence interval) = 1.24 (1.20-1.27), P = 5.05 \u00d7 10-49), and we observed a 3.7-fold difference in COPD risk between individuals in the highest and lowest genetic risk score deciles in UK Biobank. The 97 signals show enrichment in genes for development, elastic fibers and epigenetic regulation pathways. We highlight targets for drugs and compounds in development for COPD and asthma (genes in the inositol phosphate metabolism pathway and CHRM3) and describe targets for potential drug repositioning from other clinical indications.", "doi": "10.1038/ng.3787", "pmid": "28166213", "labels": [], "xrefs": [{"db": "mid", "key": "EMS71102"}, {"db": "pmc", "key": "PMC5326681"}, {"db": "pii", "key": "ng.3787"}], "notes": [], "created": "2018-12-05T09:33:42.112Z", "modified": "2026-09-23T06:37:38.954Z"}]}