{"entity": "journal", "iuid": "0dee4d8cc86245a89cac7448ccace750", "timestamp": "2026-08-22T10:59:54.680Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/journal/Circ%20Genom%20Precis%20Med.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/journal/Circ%20Genom%20Precis%20Med"}}, "title": "Circ Genom Precis Med", "issn": "2574-8300", "issn-l": null, "publications_count": 5, "publications": [{"entity": "publication", "iuid": "90472a358dc44005bad946d039912d13", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/90472a358dc44005bad946d039912d13.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/90472a358dc44005bad946d039912d13"}}, "title": "Genome-Wide Association Study of Peripheral Artery Disease.", "authors": [{"family": "van Zuydam", "given": "Natalie R", "initials": "NR", "orcid": "0000-0002-9809-1398", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/09a3e7b547e54d7c8290bb2aec1062be.json"}}, {"family": "Stiby", "given": "Alexander", "initials": "A"}, {"family": "Abdalla", "given": "Moustafa", "initials": "M", "orcid": "0000-0002-2481-9753", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2fb0711717534a829043bed28bc98ce7.json"}}, {"family": "Austin", "given": "Erin", "initials": "E", "orcid": "0000-0002-2709-8699", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6435de3ffefb43e69a8a85573ba13f4a.json"}}, {"family": "Dahlstr\u00f6m", "given": "Emma H", "initials": "EH", "orcid": "0000-0002-9809-1398", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/09a3e7b547e54d7c8290bb2aec1062be.json"}}, {"family": "McLachlan", "given": "Stela", "initials": "S"}, {"family": "Vlachopoulou", "given": "Efthymia", "initials": "E"}, {"family": "Ahlqvist", "given": "Emma", "initials": "E", "orcid": "0000-0002-6513-2384", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e8f6fb443ea34629a88f3d9fc2d0c340.json"}}, {"family": "Di Liao", "given": "Chen", "initials": "C", "orcid": "0000-0001-9469-205X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cf0186fac0e24e6d91f9027b63e8fd5b.json"}}, {"family": "Sandholm", "given": "Niina", "initials": "N", "orcid": "0000-0003-4322-6942", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c29eba17030b41fcb1716b156f1455b4.json"}}, {"family": "Forsblom", "given": "Carol", "initials": "C", "orcid": "0000-0002-3354-7454", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/91d7eb4b72c54e0da673f13e082064e4.json"}}, {"family": "Mahajan", "given": "Anubha", "initials": "A"}, {"family": "Robertson", "given": "Neil R", "initials": "NR"}, {"family": "Rayner", "given": "N William", "initials": "NW", "orcid": "0000-0003-0510-4792", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aca0e60ed7a9424ab0336f211a084372.json"}}, {"family": "Lindholm", "given": "Eero", "initials": "E", "orcid": "0000-0002-8869-681X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bedad17d5c7c44b5b64abac618d2c7fc.json"}}, {"family": "Sinisalo", "given": "Juha", "initials": "J", "orcid": "0000-0002-0169-5137", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3bd9a39dac594dda9eb2d137b3792daf.json"}}, {"family": "Perola", "given": "Markus", "initials": "M", "orcid": "0000-0003-4842-1667", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c2a1416ebe744ccdbf3649093e5a43c2.json"}}, {"family": "Kallio", "given": "Milla", "initials": "M", "orcid": "0000-0001-7215-5202", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/71cd6c405a244736a89cbf8a172dd578.json"}}, {"family": "Weiss", "given": "Emily", "initials": "E", "orcid": "0000-0001-9903-7222", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f5547af359c4fccaa3460b0d9555e80.json"}}, {"family": "Price", "given": "Jackie", "initials": "J"}, {"family": "Paterson", "given": "Andrew", "initials": "A", "orcid": "0000-0002-9169-118X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b65034fdd69a40ec9074198f7ea92ebe.json"}}, {"family": "Klein", "given": "Barbara", "initials": "B"}, {"family": "Salomaa", "given": "Veikko", "initials": "V", "orcid": "0000-0001-7563-5324", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/98bbbbad9420401aab285fe61172c736.json"}}, {"family": "Palmer", "given": "Colin N A", "initials": "CNA", "orcid": "0000-0002-6415-6560", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/062b9cf737914042946364fcc452a4ba.json"}}, {"family": "Groop", "given": "Per-Henrik", "initials": "PH"}, {"family": "Groop", "given": "Leif", "initials": "L"}, {"family": "McCarthy", "given": "Mark I", "initials": "MI", "orcid": "0000-0002-4393-0510", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/102c7e93640c43c9bbbedd1626adfd7b.json"}}, {"family": "de Andrade", "given": "Mariza", "initials": "M", "orcid": "0000-0003-2329-2686", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f8aee7e059484d49a2f574a95fa83bd0.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Hopewell", "given": "Jemma C", "initials": "JC", "orcid": "0000-0002-3870-8018", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/44e022cc0f2745408366a46518263fff.json"}}, {"family": "Colhoun", "given": "Helen M", "initials": "HM", "orcid": "0000-0002-8345-3288", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/31a8c905e2254e38b73ea76cc9fb5fd6.json"}}, {"family": "Kullo", "given": "Iftikhar J", "initials": "IJ", "orcid": "0000-0002-6524-3471", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5f9c9f6150b94485b647af70160e18a3.json"}}, {"family": "GoLEAD Consortium, SUMMIT Consortium\u2020", "given": "", "initials": ""}], "type": "journal article", "published": "2021-10-00", "journal": {"title": "Circ Genom Precis Med", "issn": "2574-8300", "volume": "14", "issue": "5", "pages": "e002862", "issn-l": null}, "abstract": "Peripheral artery disease (PAD) affects >200 million people worldwide and is associated with high mortality and morbidity. We sought to identify genomic variants associated with PAD overall and in the contexts of diabetes and smoking status.\n\nWe identified genetic variants associated with PAD and then meta-analyzed with published summary statistics from the Million Veterans Program and UK Biobank to replicate their findings. Next, we ran stratified genome-wide association analysis in ever smokers, never smokers, individuals with diabetes, and individuals with no history of diabetes and corresponding interaction analyses, to identify variants that modify the risk of PAD by diabetic or smoking status.\n\nWe identified 5 genome-wide significant (P \u22645\u00d710association-8) associations with PAD in 449 548 (Ncases=12 086) individuals of European ancestry near LPA (lipoprotein [a]), CDKN2BAS1 (CDKN2B antisense RNA 1), SH2B3 (SH2B adaptor protein 3) - PTPN11 (protein tyrosine phosphatase non-receptor type 11), HDAC9 (histone deacetylase 9), and CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit) loci (which overlapped previously reported associations). Meta-analysis with variants previously associated with PAD showed that 18 of 19 published variants remained genome-wide significant. In individuals with diabetes, rs116405693 at the CCSER1 (coiled-coil serine rich protein 1) locus was associated with PAD (odds ratio [95% CI], 1.51 [1.32-1.74], P=2.5\u00d710diabetes-9, P=5.3\u00d710interactionwithdiabetes-7). Furthermore, in smokers, rs12910984 at the CHRNA3 locus was associated with PAD (odds ratio [95% CI], 1.15 [1.11-1.19], P=9.3\u00d710smokers-10, P=3.9\u00d710interactionwithsmoking-5).\n\nOur analyses confirm the published genetic associations with PAD and identify novel variants that may influence susceptibility to PAD in the context of diabetes or smoking status.", "doi": "10.1161/CIRCGEN.119.002862", "pmid": "34601942", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8542067"}], "notes": [], "created": "2026-08-21T12:30:46.736Z", "modified": "2026-08-21T12:30:47.716Z"}, {"entity": "publication", "iuid": "785202fc448643b5a382863ddd41cd3c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/785202fc448643b5a382863ddd41cd3c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/785202fc448643b5a382863ddd41cd3c"}}, "title": "Comprehensive Investigation of Circulating Biomarkers and Their Causal Role in Atherosclerosis-Related Risk Factors and Clinical Events.", "authors": [{"family": "Zanetti", "given": "Daniela", "initials": "D"}, {"family": "Gustafsson", "given": "Stefan", "initials": "S"}, {"family": "Assimes", "given": "Themistocles L", "initials": "TL"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}], "type": "journal article", "published": "2020-12-00", "journal": {"title": "Circ Genom Precis Med", "issn": "2574-8300", "volume": "13", "issue": "6", "pages": "e002996", "issn-l": null}, "abstract": "Circulating biomarkers have been previously associated with atherosclerosis-related risk factors, but the nature of these associations is incompletely understood.\n\nWe performed multivariable-adjusted regressions and 2-sample Mendelian randomization analyses to assess observational and causal associations of 27 circulating biomarkers with 7 cardiovascular traits in up to 451 933 participants of the UK Biobank.\n\nAfter multiple-testing correction (alpha=1.3\u00d710-4), we found a total of 15, 9, 21, 22, 26, 24, and 26 biomarkers strongly associated with coronary artery disease, ischemic stroke, atrial fibrillation, type 2 diabetes, systolic blood pressure, body mass index, and waist-to-hip ratio; respectively. The Mendelian randomization analyses confirmed strong evidence of previously suggested causal associations for several glucose- and lipid-related biomarkers with type 2 diabetes and coronary artery disease. Particularly interesting findings included a protective role of IGF-1 (insulin-like growth factor 1) in systolic blood pressure, and the strong causal association of lipoprotein(a) in coronary artery disease development (\u03b2, -0.13; per SD change in exposure and outcome and odds ratio, 1.28; P=2.6\u00d710-4 and P=7.4\u00d710-35, respectively). In addition, our results indicated a causal role of increased ALT (alanine aminotransferase) in the development of type 2 diabetes and hypertension (odds ratio, 1.59 and \u03b2, 0.06, per SD change in exposure and outcome; P=4.8\u00d710-11 and P=6.0\u00d710-5). Our results suggest that it is unlikely that CRP (C-reactive protein) and vitamin D play causal roles of any meaningful magnitude in development of cardiometabolic disease.\n\nWe confirmed and extended known associations and reported several novel causal associations providing important insights about the cause of these diseases, which can help accelerate new prevention strategies.", "doi": "10.1161/CIRCGEN.120.002996", "pmid": "33125266", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1648525"}, {"db": "pmc", "key": "PMC8202726"}], "notes": [], "created": "2026-08-21T12:30:50.089Z", "modified": "2026-08-21T12:30:50.113Z"}, {"entity": "publication", "iuid": "c11e55318d8b4a0dbd7aabfc106464bb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/c11e55318d8b4a0dbd7aabfc106464bb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/c11e55318d8b4a0dbd7aabfc106464bb"}}, "title": "High-Resolution Regulatory Maps Connect Vascular Risk Variants to Disease-Related Pathways.", "authors": [{"family": "\u00c5kerborg", "given": "\u00d6rjan", "initials": "\u00d6"}, {"family": "Spalinskas", "given": "Rapolas", "initials": "R"}, {"family": "Pradhananga", "given": "Sailendra", "initials": "S"}, {"family": "Anil", "given": "Anandashankar", "initials": "A"}, {"family": "H\u00f6jer", "given": "Pontus", "initials": "P"}, {"family": "Poujade", "given": "Flore-Anne", "initials": "FA"}, {"family": "Folkersen", "given": "Lasse", "initials": "L"}, {"family": "Eriksson", "given": "Professor Per", "initials": "PP"}, {"family": "Sahl\u00e9n", "given": "Pelin", "initials": "P"}], "type": "journal article", "published": "2019-03-00", "journal": {"title": "Circ Genom Precis Med", "issn": "2574-8300", "volume": "12", "issue": "3", "pages": "e002353", "issn-l": null}, "abstract": "Genetic variant landscape of coronary artery disease is dominated by noncoding variants among which many occur within putative enhancers regulating the expression levels of relevant genes. It is crucial to assign the genetic variants to their correct genes both to gain insights into perturbed functions and better assess the risk of disease.\n\nIn this study, we generated high-resolution genomic interaction maps (\u2248750 bases) in aortic endothelial, smooth muscle cells and THP-1 (human leukemia monocytic cell line) macrophages stimulated with lipopolysaccharide using Hi-C coupled with sequence capture targeting 25 429 features, including variants associated with coronary artery disease. We also sequenced their transcriptomes and mapped putative enhancers using chromatin immunoprecipitation with an antibody against H3K27Ac.\n\nThe regions interacting with promoters showed strong enrichment for enhancer elements and validated several previously known interactions and enhancers. We detected interactions for 727 risk variants obtained by genome-wide association studies and identified novel, as well as established genes and functions associated with cardiovascular diseases. We were able to assign potential target genes for additional 398 genome-wide association studies variants using haplotype information, thereby identifying additional relevant genes and functions. Importantly, we discovered that a subset of risk variants interact with multiple promoters and their expression levels were strongly correlated.\n\nIn summary, we present a catalog of candidate genes regulated by coronary artery disease-related variants and think that it will be an invaluable resource to further the investigation of cardiovascular pathologies and disease.", "doi": "10.1161/CIRCGEN.118.002353", "pmid": "30786239", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8104016"}], "notes": [], "created": "2026-08-21T12:30:42.412Z", "modified": "2026-08-21T12:30:42.442Z"}, {"entity": "publication", "iuid": "1aa77895dba4473384a6b1214a88a9cb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1aa77895dba4473384a6b1214a88a9cb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1aa77895dba4473384a6b1214a88a9cb"}}, "title": "Common Genetic Variation in Relation to Brachial Vascular Dimensions and Flow-Mediated Vasodilation.", "authors": [{"family": "D\u00f6rr", "given": "Marcus", "initials": "M"}, {"family": "Hamburg", "given": "Naomi M", "initials": "NM"}, {"family": "M\u00fcller", "given": "Christian", "initials": "C"}, {"family": "Smith", "given": "Nicholas L", "initials": "NL"}, {"family": "Gustafsson", "given": "Stefan", "initials": "S"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T"}, {"family": "Teumer", "given": "Alexander", "initials": "A"}, {"family": "Zeller", "given": "Tanja", "initials": "T"}, {"family": "Li", "given": "Xiaohui", "initials": "X"}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Raitakari", "given": "Olli T", "initials": "OT"}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U"}, {"family": "Blankenberg", "given": "Stefan", "initials": "S"}, {"family": "McKnight", "given": "Barbara", "initials": "B"}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "K\u00e4h\u00f6nen", "given": "Mika", "initials": "M"}, {"family": "Lemaitre", "given": "Rozenn N", "initials": "RN"}, {"family": "Wild", "given": "Philipp S", "initials": "PS"}, {"family": "Nauck", "given": "Matthias", "initials": "M"}, {"family": "V\u00f6lzke", "given": "Henry", "initials": "H"}, {"family": "M\u00fcnzel", "given": "Thomas", "initials": "T"}, {"family": "Mitchell", "given": "Gary F", "initials": "GF"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Lindgren", "given": "Cecilia M", "initials": "CM"}, {"family": "Larson", "given": "Martin G", "initials": "MG"}, {"family": "Felix", "given": "Stephan B", "initials": "SB"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Lyytik\u00e4inen", "given": "Leo-Pekka", "initials": "LP"}, {"family": "Herrington", "given": "David", "initials": "D"}, {"family": "Benjamin", "given": "Emelia J", "initials": "EJ"}, {"family": "Schnabel", "given": "Renate B", "initials": "RB"}], "type": "letter", "published": "2019-02-00", "journal": {"title": "Circ Genom Precis Med", "issn": "2574-8300", "volume": "12", "issue": "2", "pages": "e002409", "issn-l": null}, "abstract": null, "doi": "10.1161/CIRCGEN.118.002409", "pmid": "30779634", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1567197"}, {"db": "pmc", "key": "PMC7835110"}], "notes": [], "created": "2026-08-21T12:30:44.553Z", "modified": "2026-08-21T12:30:44.578Z"}, {"entity": "publication", "iuid": "7d0a683eba5241b58895a1907f5fbb53", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/7d0a683eba5241b58895a1907f5fbb53.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/7d0a683eba5241b58895a1907f5fbb53"}}, "title": "Birthweight, Type 2 Diabetes Mellitus, and Cardiovascular Disease: Addressing the Barker Hypothesis With Mendelian Randomization.", "authors": [{"family": "Zanetti", "given": "Daniela", "initials": "D"}, {"family": "Tikkanen", "given": "Emmi", "initials": "E"}, {"family": "Gustafsson", "given": "Stefan", "initials": "S"}, {"family": "Priest", "given": "James R", "initials": "JR"}, {"family": "Burgess", "given": "Stephen", "initials": "S"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}], "type": "journal article", "published": "2018-06-00", "journal": {"title": "Circ Genom Precis Med", "issn": "2574-8300", "volume": "11", "issue": "6", "pages": "e002054", "issn-l": null}, "abstract": "Low birthweight has been associated with a higher risk of hypertension, type 2 diabetes mellitus (T2D), and cardiovascular disease. The Barker hypothesis posits that intrauterine growth restriction resulting in lower birthweight is causal for these diseases, but causality is difficult to infer from observational studies.\n\nWe performed regression analyses to assess associations of birthweight with cardiovascular disease and T2D in 237 631 individuals from the UK Biobank. Further, we assessed the causal relationship of such associations using Mendelian randomization.\n\nIn the observational analyses, birthweight showed inverse associations with systolic and diastolic blood pressure (\u03b2, -0.83 and -0.26; per raw unit in outcomes and SD change in birthweight; 95% confidence interval [CI], -0.90 to -0.75 and -0.31 to -0.22, respectively), T2D (odds ratio, 0.83; 95% CI, 0.79-0.87), lipid-lowering treatment (odds ratio, 0.84; 95% CI, 0.81-0.86), and coronary artery disease (hazard ratio, 0.85; 95% CI, 0.78-0.94), whereas the associations with adult body mass index and body fat (\u03b2, 0.04 and 0.02; per SD change in outcomes and birthweight; 95% CI, 0.03-0.04 and 0.01-0.02, respectively) were positive. The Mendelian randomization analyses indicated inverse causal associations of birthweight with low-density lipoprotein cholesterol, 2-hour glucose, coronary artery disease, and T2D and positive causal association with body mass index but no associations with blood pressure.\n\nOur study indicates that lower birthweight, used as a proxy for intrauterine growth retardation, is causally related with increased susceptibility to coronary artery disease and T2D. This causal relationship is not mediated by adult obesity or hypertension.", "doi": "10.1161/CIRCGEN.117.002054", "pmid": "29875125", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1010458"}, {"db": "pmc", "key": "PMC6447084"}, {"db": "pii", "key": "CIRCGEN.117.002054"}], "notes": [], "created": "2026-08-21T12:30:40.479Z", "modified": "2026-08-21T12:30:40.529Z"}], "created": "2026-08-21T12:30:40.494Z", "modified": "2026-08-21T12:30:40.494Z"}