{"entity": "researcher", "timestamp": "2026-09-23T20:31:16.854Z", "family": "Klari\u0107", "given": "Lucija", "initials": "L", "orcid": "0000-0003-3105-8929", "affiliations": ["Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, Scotland, UK.", "MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crew Road, Edinburgh, EH4 2XU, Scotland, UK.", "Genos Glycoscience Research Laboratory, Hondlova 2/11, Zagreb, 10000, Croatia."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/876d379a56c841939189f99e6d1a311b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/876d379a56c841939189f99e6d1a311b"}}, "publications": [{"entity": "publication", "iuid": "db6f75acc30d4402aec75e6d97ff1d6a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/db6f75acc30d4402aec75e6d97ff1d6a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/db6f75acc30d4402aec75e6d97ff1d6a"}}, "title": "Genetic Landscape of the ACE2 Coronavirus Receptor.", "authors": [{"family": "Yang", "given": "Zhijian", "initials": "Z", "orcid": "0000-0003-4803-8633", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/37ba93e5f6b041e4a4bea6a345adfb72.json"}}, {"family": "Macdonald-Dunlop", "given": "Erin", "initials": "E"}, {"family": "Chen", "given": "Jiantao", "initials": "J", "orcid": "0000-0002-7214-2257", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f82d7835050b4903bbc3d6dff95ebf8b.json"}}, {"family": "Zhai", "given": "Ranran", "initials": "R", "orcid": "0000-0002-5834-9120", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0aaae5317db3468384510b9727a07e02.json"}}, {"family": "Li", "given": "Ting", "initials": "T"}, {"family": "Richmond", "given": "Anne", "initials": "A"}, {"family": "Klari\u0107", "given": "Lucija", "initials": "L", "orcid": "0000-0003-3105-8929", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/876d379a56c841939189f99e6d1a311b.json"}}, {"family": "Pirastu", "given": "Nicola", "initials": "N", "orcid": "0000-0002-5363-3886", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5dbbed4477534f17ab7574658c03588a.json"}}, {"family": "Ning", "given": "Zheng", "initials": "Z", "orcid": "0000-0002-0451-6536", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e790b604719b46bfb756430be69ab7f3.json"}}, {"family": "Zheng", "given": "Chenqing", "initials": "C"}, {"family": "Wang", "given": "Yipeng", "initials": "Y"}, {"family": "Huang", "given": "Tingting", "initials": "T", "orcid": "0000-0003-2314-4448", "researcher": {"href": 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"Grace", "initials": "G", "orcid": "0000-0003-3962-7436", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d2010c5fc09c463d8cbc21ff016f34ba.json"}}, {"family": "Eriksson", "given": "Niclas", "initials": "N", "orcid": "0000-0002-2152-4343", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c2aa082be0ca4fe88eba557bc92a735a.json"}}, {"family": "Haessler", "given": "Jeffrey", "initials": "J"}, {"family": "Hu", "given": "Xiaowei", "initials": "X"}, {"family": "Zanetti", "given": "Daniela", "initials": "D", "orcid": "0000-0002-1225-1021", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/46f8254a8b2e4e0da6c85c91bb00fd7c.json"}}, {"family": "Boutin", "given": "Thibaud", "initials": "T"}, {"family": "Hwang", "given": "Shih-Jen", "initials": "SJ", "orcid": "0000-0002-2129-5704", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a37a7fc9f48841d19c6efff7d5435c06.json"}}, {"family": "Wheeler", "given": "Eleanor", "initials": "E"}, {"family": "Pietzner", "given": "Maik", "initials": "M"}, {"family": "Raffield", "given": "Laura M", "initials": "LM", "orcid": "0000-0002-7892-193X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/686393c583e94c919f8e39fc8a03d4bc.json"}}, {"family": "Kalnapenkis", "given": "Anette", "initials": "A"}, {"family": "Peters", "given": "James E", "initials": "JE"}, {"family": "Vi\u00f1uela", "given": "Ana", "initials": "A", "orcid": "0000-0003-3771-8537", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02cba70871df48eb84c17e82f95baae4.json"}}, {"family": "Gilly", "given": "Arthur", "initials": "A"}, {"family": "Elmst\u00e5hl", "given": "S\u00f6lve", "initials": "S"}, {"family": "Dedoussis", "given": "George", "initials": "G"}, {"family": "Petrie", "given": "John R", "initials": "JR"}, {"family": "Pola\u0161ek", "given": "Ozren", "initials": "O"}, {"family": "Folkersen", "given": "Lasse", "initials": "L", "orcid": "0000-0003-0708-9530", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/de3038c0ebcd4cfa8e1bd2b657c84268.json"}}, {"family": "Chen", "given": "Yan", "initials": "Y", "orcid": "0000-0001-9673-9712", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aa49e2eb78104c0e8a12765c495b8224.json"}}, {"family": "Yao", "given": "Chen", "initials": "C"}, {"family": "V\u00f5sa", "given": "Urmo", "initials": "U"}, {"family": "Pairo-Castineira", "given": "Erola", "initials": "E"}, {"family": "Clohisey", "given": "Sara", "initials": "S"}, {"family": "Bretherick", "given": "Andrew D", "initials": "AD"}, {"family": "Rawlik", "given": "Konrad", "initials": "K"}, {"family": "GenOMICC Consortium\u2020", "given": "", "initials": ""}, {"family": "IMI-DIRECT Consortium\u2020", "given": "", "initials": ""}, {"family": "Esko", "given": "T\u00f5nu", "initials": "T"}, {"family": "Enroth", "given": "Stefan", "initials": "S"}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Gyllensten", "given": "Ulf", "initials": "U"}, {"family": "Langenberg", "given": "Claudia", "initials": "C", "orcid": "0000-0002-5017-7344", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f287f3248cc24c6cbfc100c249b87418.json"}}, {"family": "Levy", "given": "Daniel", "initials": "D", "orcid": "0000-0003-1843-8724", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/57605ba755d44792ab87cf14114ec757.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/542b00d650124ce4a3776ae95571e2c1.json"}}, {"family": "Assimes", "given": "Themistocles L", "initials": "TL", "orcid": "0000-0003-2349-0009", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/610f47c94b0c4fe2bb2da6921aa8a1ef.json"}}, {"family": "Kooperberg", "given": "Charles", "initials": "C", "orcid": "0000-0002-7986-8560", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f8fbc0fa2df5467ca8c6e65def4485cd.json"}}, {"family": "Manichaikul", "given": "Ani W", "initials": "AW"}, {"family": "Siegbahn", "given": "Agneta", "initials": "A"}, {"family": "Wallentin", "given": "Lars", "initials": "L"}, {"family": "Lind", "given": "Lars", "initials": "L", "orcid": "0000-0003-2335-8542", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bb72ba22274c49dfb8a1cc5f607b1cdf.json"}}, {"family": "Zeggini", "given": "Eleftheria", "initials": "E"}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/022e140799b6466ea123319c3d70c76e.json"}}, {"family": "Butterworth", "given": "Adam S", "initials": "AS", "orcid": "0000-0002-6915-9015", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/88842023860148bb8d155b5c18db72a8.json"}}, {"family": "Micha\u00eblsson", "given": "Karl", "initials": "K", "orcid": "0000-0003-2815-1217", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e11aaf0935cc48168351739a7819a773.json"}}, {"family": "Pawitan", "given": "Yudi", "initials": "Y"}, {"family": "Joshi", "given": "Peter K", "initials": "PK", "orcid": "0000-0002-6361-5059", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/67a2c02915a5435d8ff7e148eeab9cc8.json"}}, {"family": "Baillie", "given": "J Kenneth", "initials": "JK"}, {"family": "M\u00e4larstig", "given": "Anders", "initials": "A"}, {"family": "Reiner", "given": "Alexander P", "initials": "AP", "orcid": "0000-0002-1427-4470", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/244e81f4f21645e9b66f7b2ba6a8eb07.json"}}, {"family": "Wilson", "given": "James F", "initials": "JF"}, {"family": "Shen", "given": "Xia", "initials": "X", "orcid": "0000-0003-4390-1979", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fdf103b9d2464f7ca1ed1a8eb1a5808d.json"}}], "type": "journal article", "published": "2022-05-03", "journal": {"title": "Circulation", "issn": "1524-4539", "volume": "145", "issue": "18", "pages": "1398-1411", "issn-l": "0009-7322"}, "abstract": "SARS-CoV-2, the causal agent of COVID-19, enters human cells using the ACE2 (angiotensin-converting enzyme 2) protein as a receptor. ACE2 is thus key to the infection and treatment of the coronavirus. ACE2 is highly expressed in the heart and respiratory and gastrointestinal tracts, playing important regulatory roles in the cardiovascular and other biological systems. However, the genetic basis of the ACE2 protein levels is not well understood.\n\nWe have conducted the largest genome-wide association meta-analysis of plasma ACE2 levels in >28 000 individuals of the SCALLOP Consortium (Systematic and Combined Analysis of Olink Proteins). We summarize the cross-sectional epidemiological correlates of circulating ACE2. Using the summary statistics-based high-definition likelihood method, we estimate relevant genetic correlations with cardiometabolic phenotypes, COVID-19, and other human complex traits and diseases. We perform causal inference of soluble ACE2 on vascular disease outcomes and COVID-19 severity using mendelian randomization. We also perform in silico functional analysis by integrating with other types of omics data.\n\nWe identified 10 loci, including 8 novel, capturing 30% of the heritability of the protein. We detected that plasma ACE2 was genetically correlated with vascular diseases, severe COVID-19, and a wide range of human complex diseases and medications. An X-chromosome cis-protein quantitative trait loci-based mendelian randomization analysis suggested a causal effect of elevated ACE2 levels on COVID-19 severity (odds ratio, 1.63 [95% CI, 1.10-2.42]; P=0.01), hospitalization (odds ratio, 1.52 [95% CI, 1.05-2.21]; P=0.03), and infection (odds ratio, 1.60 [95% CI, 1.08-2.37]; P=0.02). Tissue- and cell type-specific transcriptomic and epigenomic analysis revealed that the ACE2 regulatory variants were enriched for DNA methylation sites in blood immune cells.\n\nHuman plasma ACE2 shares a genetic basis with cardiovascular disease, COVID-19, and other related diseases. The genetic architecture of the ACE2 protein is mapped, providing a useful resource for further biological and clinical studies on this coronavirus receptor.", "doi": "10.1161/CIRCULATIONAHA.121.057888", "pmid": "35387486", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9047645"}], "notes": [], "created": "2026-09-23T09:44:59.764Z", "modified": "2026-09-23T10:19:15.229Z"}, {"entity": "publication", "iuid": "b106a84a2c0f4ee69261916383ec73b5", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b106a84a2c0f4ee69261916383ec73b5.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b106a84a2c0f4ee69261916383ec73b5"}}, "title": "Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation.", "authors": [{"family": "Shen", "given": "Xia", "initials": "X", "orcid": "0000-0003-4390-1979", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fdf103b9d2464f7ca1ed1a8eb1a5808d.json"}}, {"family": "Klari\u0107", "given": "Lucija", "initials": "L", "orcid": "0000-0003-3105-8929", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/876d379a56c841939189f99e6d1a311b.json"}}, {"family": "Sharapov", "given": "Sodbo", "initials": "S"}, {"family": "Mangino", "given": "Massimo", "initials": "M", "orcid": "0000-0002-2167-7470", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f1c90171562c487392b4257d272d3c17.json"}}, {"family": "Ning", "given": "Zheng", "initials": "Z"}, {"family": "Wu", "given": "Di", "initials": "D"}, {"family": "Trbojevi\u0107-Akma\u010di\u0107", "given": "Irena", "initials": "I"}, {"family": "Pu\u010di\u0107-Bakovi\u0107", "given": "Maja", "initials": "M"}, {"family": "Rudan", "given": "Igor", "initials": "I"}, {"family": "Pola\u0161ek", "given": "Ozren", "initials": "O"}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/542b00d650124ce4a3776ae95571e2c1.json"}}, {"family": "Spector", "given": "Timothy D", "initials": "TD"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/513b6983cc9d478ab9d81c2f21579961.json"}}, {"family": "Lauc", "given": "Gordan", "initials": "G"}, {"family": "Aulchenko", "given": "Yurii S", "initials": "YS", "orcid": "0000-0002-7899-1575", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d581818861a47f6965867c1b1138994.json"}}], "type": "journal article", "published": "2017-09-06", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "8", "issue": "1", "pages": "447", "issn-l": "2041-1723"}, "abstract": "Joint modeling of a number of phenotypes using multivariate methods has often been neglected in genome-wide association studies and if used, replication has not been sought. Modern omics technologies allow characterization of functional phenomena using a large number of related phenotype measures, which can benefit from such joint analysis. Here, we report a multivariate genome-wide association studies of 23 immunoglobulin G (IgG) N-glycosylation phenotypes. In the discovery cohort, our multi-phenotype method uncovers ten genome-wide significant loci, of which five are novel (IGH, ELL2, HLA-B-C, AZI1, FUT6-FUT3). We convincingly replicate all novel loci via multivariate tests. We show that IgG N-glycosylation loci are strongly enriched for genes expressed in the immune system, in particular antibody-producing cells and B lymphocytes. We empirically demonstrate the efficacy of multivariate methods to discover novel, reproducible pleiotropic effects.Multivariate analysis methods can uncover the relationship between phenotypic measures characterised by modern omic techniques. Here the authors conduct a multivariate GWAS on IgG N-glycosylation phenotypes and identify 5 novel loci enriched in immune system genes.", "doi": "10.1038/s41467-017-00453-3", "pmid": "28878392", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5587582"}, {"db": "pii", "key": "10.1038/s41467-017-00453-3"}], "notes": [], "created": "2018-12-05T12:09:14.785Z", "modified": "2026-09-23T07:41:03.035Z"}]}