{"entity": "researcher", "timestamp": "2026-09-12T08:31:55.361Z", "family": "Jonsdottir", "given": "Ingileif", "initials": "I", "orcid": "0000-0001-8339-150X", "affiliations": ["deCODE Genetics/Amgen Inc., Sturlugata 8, 101, Reykjavik, Iceland."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f4e82de44504a55b50b0378447318f8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f4e82de44504a55b50b0378447318f8"}}, "publications": [{"entity": "publication", "iuid": "fa85625093c64a4f8d5f54b783ecbdce", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/fa85625093c64a4f8d5f54b783ecbdce.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/fa85625093c64a4f8d5f54b783ecbdce"}}, "title": "Sequence variants influencing the regulation of serum IgG subclass levels.", "authors": [{"family": "Olafsdottir", "given": "Thorunn A", "initials": "TA", "orcid": "0000-0001-5454-938X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/417237ea231141ce83a9f314aacc4714.json"}}, {"family": "Thorleifsson", "given": "Gudmar", "initials": "G", "orcid": "0000-0003-4623-9087", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3460ce8189d243829543bd5919c42588.json"}}, {"family": "Lopez de Lapuente Portilla", "given": "Aitzkoa", "initials": "A"}, {"family": "Jonsson", "given": "Stefan", "initials": "S"}, {"family": "Stefansdottir", "given": "Lilja", "initials": "L"}, {"family": "Niroula", "given": "Abhishek", "initials": "A", "orcid": "0000-0002-5904-0635", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/05df7afc7a494ba5af8a378e5ffa53f0.json"}}, {"family": "Jonasdottir", "given": "Aslaug", "initials": "A"}, {"family": "Eggertsson", "given": "Hannes P", "initials": "HP", "orcid": "0000-0002-1674-9978", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c1148fbfcc6416ca8e3229341b6c3c9.json"}}, {"family": "Halldorsson", "given": "Gisli H", "initials": "GH", "orcid": "0000-0001-7067-9862", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/28549aa56c4543178dd7626dbc9e4667.json"}}, {"family": "Thorlacius", "given": "Gudny E", "initials": "GE"}, {"family": "Arnthorsson", "given": "Asgeir O", "initials": "AO"}, {"family": "Bjornsdottir", "given": "Unnur S", "initials": "US"}, {"family": "Asselbergs", "given": "Folkert W", "initials": "FW", "orcid": "0000-0002-1692-8669", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/181a8a467ca54344b574d248cc98f1d3.json"}}, {"family": "Bentlage", "given": "Arthur E H", "initials": "AEH", "orcid": "0000-0002-7924-554X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/381bbbaf3dd942029554efdfd15c425a.json"}}, {"family": "Eyjolfsson", "given": "Gudmundur I", "initials": "GI"}, {"family": "Gudmundsdottir", "given": "Steinunn", "initials": "S", "orcid": "0000-0001-9317-0903", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ab6ef8f8394e4892b48792cb0795a03b.json"}}, {"family": "Gunnarsdottir", "given": "Kristbjorg", "initials": "K"}, {"family": "Halldorsson", "given": "Bjarni V", "initials": "BV", "orcid": "0000-0003-0756-0767", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fb4e875f04154f40b3f50fd7596d083f.json"}}, {"family": "Holm", "given": "Hilma", "initials": "H", "orcid": "0000-0002-9517-6636", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b4c040c4c22346f8902fe25320c0c8f5.json"}}, {"family": "Ludviksson", "given": "Bjorn R", "initials": "BR"}, {"family": "Melsted", "given": "Pall", "initials": "P"}, {"family": "Norddahl", "given": "Gudmundur L", "initials": "GL"}, {"family": "Olafsson", "given": "Isleifur", "initials": "I"}, {"family": "Saevarsdottir", "given": "Saedis", "initials": "S", "orcid": "0000-0001-9392-6184", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/eb3c8823bb4d41d1a207f7be6d9ac63b.json"}}, {"family": "Sigurdardottir", "given": "Olof", "initials": "O"}, {"family": "Sigurdsson", "given": "Asgeir", "initials": "A"}, {"family": "Temming", "given": "Robin", "initials": "R"}, {"family": "\u00d6nundarson", "given": "Pall T", "initials": "PT"}, {"family": "Thorsteinsdottir", "given": "Unnur", "initials": "U"}, {"family": "Vidarsson", "given": "Gestur", "initials": "G", "orcid": "0000-0001-5621-003X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5bfa1f126aaa46f99f6c5151caab36d0.json"}}, {"family": "Sulem", "given": "Patrick", "initials": "P", "orcid": "0000-0001-7123-6123", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/587ca1614f654c4e9a96a84fdab962f4.json"}}, {"family": "Gudbjartsson", "given": "Daniel F", "initials": "DF", "orcid": "0000-0002-5222-9857", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/11758dde6b6e4d0cad421e39719b2821.json"}}, {"family": "Jonsdottir", "given": "Ingileif", "initials": "I", "orcid": "0000-0001-8339-150X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f4e82de44504a55b50b0378447318f8.json"}}, {"family": "Nilsson", "given": "Bj\u00f6rn", "initials": "B", "orcid": "0000-0001-5542-0254", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2e9df5bbe6f948b196a65176963748c8.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9edf80871ac84e76a4d1316fc7079d7d.json"}}], "type": "journal article", "published": "2024-09-14", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "15", "issue": "1", "pages": "8054", "issn-l": "2041-1723"}, "abstract": "Immunoglobulin G (IgG) is the main isotype of antibody in human blood. IgG consists of four subclasses (IgG1 to IgG4), encoded by separate constant region genes within the Ig heavy chain locus (IGH). Here, we report a genome-wide association study on blood IgG subclass levels. Across 4334 adults and 4571 individuals under 18 years, we discover ten new and identify four known variants at five loci influencing IgG subclass levels. These variants also affect the risk of asthma, autoimmune diseases, and blood traits. Seven variants map to the IGH locus, three to the Fc\u03b3 receptor (FCGR) locus, and two to the human leukocyte antigen (HLA) region, affecting the levels of all IgG subclasses. The most significant associations are observed between the G1m (f), G2m(n) and G3m(b*) allotypes, and IgG1, IgG2 and IgG3, respectively. Additionally, we describe selective associations with IgG4 at 16p11.2 (ITGAX) and 17q21.1 (IKZF3, ZPBP2, GSDMB, ORMDL3). Interestingly, the latter coincides with a highly pleiotropic signal where the allele associated with lower IgG4 levels protects against childhood asthma but predisposes to inflammatory bowel disease. Our results provide insight into the regulation of antibody-mediated immunity that can potentially be useful in the development of antibody based therapeutics.", "doi": "10.1038/s41467-024-52470-8", "pmid": "39277589", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "pmc", "key": "PMC11401918"}, {"db": "pii", "key": "10.1038/s41467-024-52470-8"}], "notes": [], "created": "2025-03-18T15:48:56.925Z", "modified": "2025-03-18T15:49:15.318Z"}, {"entity": "publication", "iuid": "c0fc1ac6d9704cacb375132e24f50c91", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/c0fc1ac6d9704cacb375132e24f50c91.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/c0fc1ac6d9704cacb375132e24f50c91"}}, "title": "Deciphering the genetics and mechanisms of predisposition to multiple myeloma.", "authors": [{"family": "Went", "given": "Molly", "initials": "M", "orcid": "0000-0003-3271-975X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0ec75486d11444c89b8f8a8d81d22bda.json"}}, {"family": "Duran-Lozano", "given": "Laura", "initials": "L"}, {"family": "Halldorsson", "given": "Gisli H", "initials": "GH", "orcid": "0000-0001-7067-9862", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/28549aa56c4543178dd7626dbc9e4667.json"}}, {"family": "Gunnell", "given": "Andrea", "initials": "A", "orcid": "0000-0001-5162-5391", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/879f235469b443259ce663d029e7cdf8.json"}}, {"family": "Ugidos-Damboriena", "given": "Nerea", "initials": "N"}, {"family": "Law", "given": "Philip", "initials": "P", "orcid": "0000-0001-9663-4611", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/499974f99dfe4fdd87a73034acb98d3e.json"}}, {"family": "Ekdahl", "given": "Ludvig", "initials": "L"}, {"family": "Sud", "given": "Amit", "initials": "A", "orcid": "0000-0002-6133-0164", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/058d01f444ad44469b82a5b08ffe6aa2.json"}}, {"family": "Thorleifsson", "given": "Gudmar", "initials": "G", "orcid": "0000-0003-4623-9087", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3460ce8189d243829543bd5919c42588.json"}}, {"family": "Thodberg", "given": "Malte", "initials": "M", "orcid": "0000-0001-6244-3841", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7f2c232400714922bdbd28e77ede971e.json"}}, {"family": "Olafsdottir", "given": "Thorunn", "initials": "T", "orcid": "0000-0001-5454-938X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/417237ea231141ce83a9f314aacc4714.json"}}, {"family": "Lamarca-Arrizabalaga", "given": "Antton", "initials": "A", "orcid": "0009-0008-3426-2347", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c28e60407d84e159c09d6789d087264.json"}}, {"family": "Cafaro", "given": "Caterina", "initials": "C"}, {"family": "Niroula", "given": "Abhishek", "initials": "A", "orcid": "0000-0002-5904-0635", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/05df7afc7a494ba5af8a378e5ffa53f0.json"}}, {"family": "Ajore", "given": "Ram", "initials": "R"}, {"family": "Lopez de Lapuente Portilla", "given": "Aitzkoa", "initials": "A"}, {"family": "Ali", "given": "Zain", "initials": "Z"}, {"family": "Pertesi", "given": "Maroulio", "initials": "M", "orcid": "0000-0002-4869-8925", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1395ddcc49604bc1a05ea52f7b1ad79a.json"}}, {"family": "Goldschmidt", "given": "Hartmut", "initials": "H", "orcid": "0000-0003-0961-0035", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f634b54dfdbd48bb9f53f574e0cfd023.json"}}, {"family": "Stefansdottir", "given": "Lilja", "initials": "L"}, {"family": "Kristinsson", "given": "Sigurdur Y", "initials": "SY"}, {"family": "Stacey", "given": "Simon N", "initials": "SN", "orcid": "0000-0002-4732-7380", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c0dcdf7567e1416482442d565b8005c0.json"}}, {"family": "Love", "given": "Thorvardur J", "initials": "TJ"}, {"family": "Rognvaldsson", "given": "Saemundur", "initials": "S"}, {"family": "Hajek", "given": "Roman", "initials": "R", "orcid": "0000-0001-6955-6267", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7099912b8d2d400d864ba440cacd434c.json"}}, {"family": "Vodicka", "given": "Pavel", "initials": "P"}, {"family": "Pettersson-Kymmer", "given": "Ulrika", "initials": "U", "orcid": "0000-0002-0557-9803", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6e219143aebf4a5386f19f01f6e1d237.json"}}, {"family": "Sp\u00e4th", "given": "Florentin", "initials": "F"}, {"family": "Schinke", "given": "Carolina", "initials": "C", "orcid": "0000-0002-2699-1741", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a0367de9c18a41b5ba34821157acc0b1.json"}}, {"family": "Van Rhee", "given": "Frits", "initials": "F", "orcid": "0000-0001-9959-1282", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b7cb56c62bce4c51947aed1b0ee21887.json"}}, {"family": "Sulem", "given": "Patrick", "initials": "P", "orcid": "0000-0001-7123-6123", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/587ca1614f654c4e9a96a84fdab962f4.json"}}, {"family": "Ferkingstad", "given": "Egil", "initials": "E", "orcid": "0000-0001-8090-7988", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/503c894e23fc4ceea1316b6a089ab889.json"}}, {"family": "Hjorleifsson Eldjarn", "given": "Grimur", "initials": "G", "orcid": "0000-0002-9580-6685", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/98aff0e76e114696aaaabadc5ec18388.json"}}, {"family": "Mellqvist", "given": "Ulf-Henrik", "initials": "UH"}, {"family": "Jonsdottir", "given": "Ingileif", "initials": "I", "orcid": "0000-0001-8339-150X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f4e82de44504a55b50b0378447318f8.json"}}, {"family": "Morgan", "given": "Gareth", "initials": "G", "orcid": "0000-0002-4271-6360", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bf94973d06d4414a98855c4506453f6c.json"}}, {"family": "Sonneveld", "given": "Pieter", "initials": "P"}, {"family": "Waage", "given": "Anders", "initials": "A", "orcid": "0000-0001-9072-1220", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/04b9b219373b4dea9950e8a7ae9f6f0b.json"}}, {"family": "Weinhold", "given": "Niels", "initials": "N"}, {"family": "Thomsen", "given": "Hauke", "initials": "H"}, {"family": "F\u00f6rsti", "given": "Asta", "initials": "A", "orcid": "0000-0002-9857-4728", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a2356cdc19c040348a7924e3dd4b8c32.json"}}, {"family": "Hansson", "given": "Markus", "initials": "M", "orcid": "0000-0002-7715-4548", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9aabef8e26ba40d9abd8e229d954795d.json"}}, {"family": "Juul-Vangsted", "given": "Annette", "initials": "A", "orcid": "0000-0002-2131-731X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7eadc85ce9564aeb838718479df147ff.json"}}, {"family": "Thorsteinsdottir", "given": "Unnur", "initials": "U"}, {"family": "Hemminki", "given": "Kari", "initials": "K"}, {"family": "Kaiser", "given": "Martin", "initials": "M", "orcid": "0000-0002-3677-4804", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/61695044f08e4490a7feaf7db2aacc07.json"}}, {"family": "Rafnar", "given": "Thorunn", "initials": "T", "orcid": "0000-0003-0491-7046", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/67a01e1ebd79473dbc0059d38f066e55.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9edf80871ac84e76a4d1316fc7079d7d.json"}}, {"family": "Houlston", "given": "Richard", "initials": "R", "orcid": "0000-0002-5268-0242", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e7605f3f03f94e1b95c011318f5e5d4c.json"}}, {"family": "Nilsson", "given": "Bj\u00f6rn", "initials": "B", "orcid": "0000-0001-5542-0254", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2e9df5bbe6f948b196a65176963748c8.json"}}], "type": "journal article", "published": "2024-08-05", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "15", "issue": "1", "pages": "6644", "issn-l": "2041-1723"}, "abstract": "Multiple myeloma (MM) is an incurable malignancy of plasma cells. Epidemiological studies indicate a substantial heritable component, but the underlying mechanisms remain unclear. Here, in a genome-wide association study totaling 10,906 cases and 366,221 controls, we identify 35 MM risk loci, 12 of which are novel. Through functional fine-mapping and Mendelian randomization, we uncover two causal mechanisms for inherited MM risk: longer telomeres; and elevated levels of B-cell maturation antigen (BCMA) and interleukin-5 receptor alpha (IL5RA) in plasma. The largest increase in BCMA and IL5RA levels is mediated by the risk variant rs34562254-A at TNFRSF13B. While individuals with loss-of-function variants in TNFRSF13B develop B-cell immunodeficiency, rs34562254-A exerts a gain-of-function effect, increasing MM risk through amplified B-cell responses. Our results represent an analysis of genetic MM predisposition, highlighting causal mechanisms contributing to MM development.", "doi": "10.1038/s41467-024-50932-7", "pmid": "39103364", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "pmc", "key": "PMC11300596"}, {"db": "pii", "key": "10.1038/s41467-024-50932-7"}], "notes": [], "created": "2025-03-18T15:48:53.213Z", "modified": "2025-03-18T15:49:12.903Z"}, {"entity": "publication", "iuid": "6c36fbd87814421c9d019b4d974c92fd", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6c36fbd87814421c9d019b4d974c92fd.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6c36fbd87814421c9d019b4d974c92fd"}}, "title": "Functional dissection of inherited non-coding variation influencing multiple myeloma risk.", "authors": [{"family": "Ajore", "given": "Ram", "initials": "R"}, {"family": "Niroula", "given": "Abhishek", "initials": "A", "orcid": "0000-0002-5904-0635", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/05df7afc7a494ba5af8a378e5ffa53f0.json"}}, {"family": "Pertesi", "given": "Maroulio", "initials": "M", "orcid": "0000-0002-4869-8925", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1395ddcc49604bc1a05ea52f7b1ad79a.json"}}, {"family": "Cafaro", "given": "Caterina", "initials": "C"}, {"family": "Thodberg", "given": "Malte", "initials": "M", "orcid": "0000-0001-6244-3841", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7f2c232400714922bdbd28e77ede971e.json"}}, {"family": "Went", "given": "Molly", "initials": "M"}, {"family": "Bao", "given": "Erik L", "initials": "EL", "orcid": "0000-0002-6074-6766", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7b5eac9b5ee541258aea4146fcbb7d49.json"}}, {"family": "Duran-Lozano", "given": "Laura", "initials": "L"}, {"family": "Lopez de Lapuente Portilla", "given": "Aitzkoa", "initials": "A"}, {"family": "Olafsdottir", "given": "Thorunn", "initials": "T", "orcid": "0000-0001-5454-938X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/417237ea231141ce83a9f314aacc4714.json"}}, {"family": "Ugidos-Damboriena", "given": "Nerea", "initials": "N"}, {"family": "Magnusson", "given": "Olafur", "initials": "O"}, {"family": "Samur", "given": "Mehmet", "initials": "M", "orcid": "0000-0002-9978-5682", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0b458dd507e6487c86b67a7189842894.json"}}, {"family": "Lareau", "given": "Caleb A", "initials": "CA", "orcid": "0000-0003-4179-4807", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6458fb4cee9e45808ce001ed492d5d1b.json"}}, {"family": "Halldorsson", "given": "Gisli H", "initials": "GH", "orcid": "0000-0001-7067-9862", "researcher": {"href": 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"researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b8fef41b72dd464f9f0e46ddcd0a2434.json"}}, {"family": "Kaiser", "given": "Martin", "initials": "M", "orcid": "0000-0002-3677-4804", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/61695044f08e4490a7feaf7db2aacc07.json"}}, {"family": "Anderson", "given": "Kenneth", "initials": "K", "orcid": "0000-0002-6418-0886", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/eaec398be2ff4e25b8522e1a921f3215.json"}}, {"family": "Jonsdottir", "given": "Ingileif", "initials": "I", "orcid": "0000-0001-8339-150X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f4e82de44504a55b50b0378447318f8.json"}}, {"family": "Munshi", "given": "Nikhil", "initials": "N", "orcid": "0000-0002-7344-9795", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/885baa458ac84ec8b7b3acb26fef7ec4.json"}}, {"family": "Rafnar", "given": "Thorunn", "initials": "T", "orcid": "0000-0003-0491-7046", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/67a01e1ebd79473dbc0059d38f066e55.json"}}, {"family": "Waage", "given": "Anders", "initials": "A"}, {"family": "Weinhold", "given": "Niels", "initials": "N"}, {"family": "Thorsteinsdottir", "given": "Unnur", "initials": "U"}, {"family": "Sankaran", "given": "Vijay G", "initials": "VG", "orcid": "0000-0003-0044-443X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0a967a5a378f406299b3fefe244361c9.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9edf80871ac84e76a4d1316fc7079d7d.json"}}, {"family": "Houlston", "given": "Richard", "initials": "R", "orcid": "0000-0002-5268-0242", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e7605f3f03f94e1b95c011318f5e5d4c.json"}}, {"family": "Nilsson", "given": "Bj\u00f6rn", "initials": "B", "orcid": "0000-0001-5542-0254", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2e9df5bbe6f948b196a65176963748c8.json"}}], "type": "journal article", "published": "2022-01-10", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "13", "issue": "1", "pages": "151", "issn-l": "2041-1723"}, "abstract": "Thousands of non-coding variants have been associated with increased risk of human diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an integrative study combining massively parallel reporter assays (MPRA), expression analyses (eQTL, meQTL, PCHiC) and chromatin accessibility analyses in primary cells (caQTL), we investigate 1,039 variants associated with multiple myeloma (MM). We demonstrate that MM susceptibility is mediated by gene-regulatory changes in plasma cells and B-cells, and identify putative causal variants at six risk loci (SMARCD3, WAC, ELL2, CDCA7L, CEP120, and PREX1). Notably, three of these variants co-localize with significant plasma cell caQTLs, signaling the presence of causal activity at these precise genomic positions in an endogenous chromosomal context in vivo. Our results provide a systematic functional dissection of risk loci for a hematologic malignancy.", "doi": "10.1038/s41467-021-27666-x", "pmid": "35013207", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "pmc", "key": "PMC8748989"}, {"db": "pii", "key": "10.1038/s41467-021-27666-x"}], "notes": [], "created": "2023-11-20T11:36:12.941Z", "modified": "2023-11-20T11:36:13.588Z"}]}