{"entity": "researcher", "timestamp": "2026-05-12T21:30:33.799Z", "family": "Nilsson", "given": "Bj\u00f6rn", "initials": "B", "orcid": "0000-0001-5542-0254", "affiliations": ["Department of Laboratory Medicine, Hematology and Transfusion Medicine, Lund, Sweden. bjorn.nilsson@med.lu.se.", "Broad Institute, 415 Main Street, Cambridge, MA, USA. bjorn.nilsson@med.lu.se."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/2e9df5bbe6f948b196a65176963748c8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/2e9df5bbe6f948b196a65176963748c8"}}, "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": "824c14ef7ba444bbba442e1e23032c40", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/824c14ef7ba444bbba442e1e23032c40.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/824c14ef7ba444bbba442e1e23032c40"}}, "title": "Functional and molecular profiling of hematopoietic stem cells during regeneration.", "authors": [{"family": "Rydstr\u00f6m", "given": "Anna", "initials": "A"}, {"family": "Grahn", "given": "Tan H M", "initials": "THM", "orcid": "0000-0002-4737-4320", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2dd4d05a5728436bb7347e2d94df7469.json"}}, {"family": "Niroula", "given": "Abhishek", "initials": "A", "orcid": "0000-0002-5904-0635", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/05df7afc7a494ba5af8a378e5ffa53f0.json"}}, {"family": "Mansell", "given": "Els", "initials": "E"}, {"family": "van der Garde", "given": "Mark", "initials": "M"}, {"family": "Pertesi", "given": "Maroulio", "initials": "M", "orcid": "0000-0002-4869-8925", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1395ddcc49604bc1a05ea52f7b1ad79a.json"}}, {"family": "Subramaniam", "given": "Agatheeswaran", "initials": "A"}, {"family": "Soneji", "given": "Shamit", "initials": "S"}, {"family": "Zubarev", "given": "Roman", "initials": "R"}, {"family": "Enver", "given": "Tariq", "initials": "T"}, {"family": "Nilsson", "given": "Bj\u00f6rn", "initials": "B", "orcid": "0000-0001-5542-0254", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2e9df5bbe6f948b196a65176963748c8.json"}}, {"family": "Miharada", "given": "Kenichi", "initials": "K"}, {"family": "Larsson", "given": "Jonas", "initials": "J"}, {"family": "Karlsson", "given": "Stefan", "initials": "S", "orcid": "0000-0002-2353-2531", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/78905b5834b44e8982484b2a910f476d.json"}}], "type": "journal article", "published": "2023-11-00", "journal": {"title": "Exp. Hematol.", "issn": "1873-2399", "volume": "127", "pages": "40-51", "issn-l": "0301-472X"}, "abstract": "Hematopoietic stem cells (HSCs) enable hematopoietic stem cell transplantation (HCT) through their ability to replenish the entire blood system. Proliferation of HSCs is linked to decreased reconstitution potential, and a precise regulation of actively dividing HSCs is thus essential to ensure long-term functionality. This regulation becomes important in the transplantation setting where HSCs undergo proliferation followed by a gradual transition to quiescence and homeostasis. Although mouse HSCs have been well studied under homeostatic conditions, the mechanisms regulating HSC activation under stress remain unclear. Here, we analyzed the different phases of regeneration after transplantation. We isolated bone marrow from mice at 8 time points after transplantation and examined the reconstitution dynamics and transcriptional profiles of stem and progenitor populations. We found that regenerating HSCs initially produced rapidly expanding progenitors and displayed distinct changes in fatty acid metabolism and glycolysis. Moreover, we observed molecular changes in cell cycle, MYC and mTOR signaling in both HSCs, and progenitor subsets. We used a decay rate model to fit the temporal transcription profiles of regenerating HSCs and identified genes with progressively decreased or increased expression after transplantation. These genes overlapped to a large extent with published gene sets associated with key aspects of HSC function, demonstrating the potential of this data set as a resource for identification of novel HSC regulators. Taken together, our study provides a detailed functional and molecular characterization of HSCs at different phases of regeneration and identifies a gene set associated with the transition from proliferation to quiescence.", "doi": "10.1016/j.exphem.2023.08.010", "pmid": "37666355", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "pii", "key": "S0301-472X(23)01700-9"}], "notes": [], "created": "2023-11-20T11:39:40.893Z", "modified": "2025-04-11T07:24:56.095Z"}, {"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": "https://publications-affiliated.scilifelab.se/researcher/28549aa56c4543178dd7626dbc9e4667.json"}}, {"family": "Thorleifsson", "given": "Gudmar", "initials": "G"}, {"family": "Norddahl", "given": "Gudmundur L", "initials": "GL"}, {"family": "Gunnarsdottir", "given": "Kristbjorg", "initials": "K"}, {"family": "F\u00f6rsti", "given": "Asta", "initials": "A", "orcid": "0000-0002-9857-4728", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a2356cdc19c040348a7924e3dd4b8c32.json"}}, {"family": "Goldschmidt", "given": "Hartmut", "initials": "H", "orcid": "0000-0003-0961-0035", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f634b54dfdbd48bb9f53f574e0cfd023.json"}}, {"family": "Hemminki", "given": "Kari", "initials": "K"}, {"family": "van Rhee", "given": "Frits", "initials": "F"}, {"family": "Kimber", "given": "Scott", "initials": "S"}, {"family": "Sperling", "given": "Adam S", "initials": "AS", "orcid": "0000-0002-9369-4413", "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"}, {"entity": "publication", "iuid": "a23f439e8d27436ea664d32986586d76", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a23f439e8d27436ea664d32986586d76.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a23f439e8d27436ea664d32986586d76"}}, "title": "Germline variants at SOHLH2 influence multiple myeloma risk.", "authors": [{"family": "Duran-Lozano", "given": "Laura", "initials": "L", "orcid": "0000-0003-3557-5018", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/de2e3fde2a084b76bb3951025f53fe43.json"}}, {"family": "Thorleifsson", "given": "Gudmar", "initials": "G"}, {"family": "Lopez de Lapuente Portilla", "given": "Aitzkoa", "initials": "A"}, {"family": "Niroula", "given": "Abhishek", "initials": "A"}, {"family": "Went", "given": "Molly", "initials": "M"}, {"family": "Thodberg", "given": "Malte", "initials": "M"}, {"family": "Pertesi", "given": "Maroulio", "initials": "M"}, {"family": "Ajore", "given": "Ram", "initials": "R"}, {"family": "Cafaro", "given": "Caterina", "initials": "C"}, {"family": "Olason", "given": "Pall I", "initials": "PI"}, {"family": "Stefansdottir", "given": "Lilja", "initials": "L"}, {"family": "Bragi Walters", "given": "G", "initials": "G", "orcid": "0000-0002-5415-6487", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/82463c5a2ff44538a81559d5b83fb76b.json"}}, {"family": "Halldorsson", "given": "Gisli H", "initials": "GH", "orcid": "0000-0001-7067-9862", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/28549aa56c4543178dd7626dbc9e4667.json"}}, {"family": "Turesson", "given": "Ingemar", "initials": "I"}, {"family": "Kaiser", "given": "Martin F", "initials": "MF", "orcid": "0000-0002-3677-4804", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/61695044f08e4490a7feaf7db2aacc07.json"}}, {"family": "Weinhold", "given": "Niels", "initials": "N"}, {"family": "Abildgaard", "given": "Niels", "initials": "N"}, {"family": "Andersen", "given": "Niels Frost", "initials": "NF"}, {"family": "Mellqvist", "given": "Ulf-Henrik", "initials": "UH"}, {"family": "Waage", "given": "Anders", "initials": "A"}, {"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": "Hansson", "given": "Markus", "initials": "M", "orcid": "0000-0002-7715-4548", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9aabef8e26ba40d9abd8e229d954795d.json"}}, {"family": "Houlston", "given": "Richard", "initials": "R", "orcid": "0000-0002-5268-0242", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e7605f3f03f94e1b95c011318f5e5d4c.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"}, {"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": "2021-04-19", "journal": {"title": "Blood Cancer J", "issn": "2044-5385", "volume": "11", "issue": "4", "pages": "76", "issn-l": null}, "abstract": "Multiple myeloma (MM) is caused by the uncontrolled, clonal expansion of plasma cells. While there is epidemiological evidence for inherited susceptibility, the molecular basis remains incompletely understood. We report a genome-wide association study totalling 5,320 cases and 422,289 controls from four Nordic populations, and find a novel MM risk variant at SOHLH2 at 13q13.3 (risk allele frequency = 3.5%; odds ratio = 1.38; P = 2.2 \u00d7 10-14). This gene encodes a transcription factor involved in gametogenesis that is normally only weakly expressed in plasma cells. The association is represented by 14 variants in linkage disequilibrium. Among these, rs75712673 maps to a genomic region with open chromatin in plasma cells, and upregulates SOHLH2 in this cell type. Moreover, rs75712673 influences transcriptional activity in luciferase assays, and shows a chromatin looping interaction with the SOHLH2 promoter. Our work provides novel insight into MM susceptibility.", "doi": "10.1038/s41408-021-00468-6", "pmid": "33875642", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "pmc", "key": "PMC8055668"}, {"db": "pii", "key": "10.1038/s41408-021-00468-6"}], "notes": [], "created": "2023-11-20T11:27:50.066Z", "modified": "2023-11-20T11:27:50.552Z"}, {"entity": "publication", "iuid": "0a248820b5834f50a253492bb0ede663", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/0a248820b5834f50a253492bb0ede663.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/0a248820b5834f50a253492bb0ede663"}}, "title": "Accelerating target deconvolution for therapeutic antibody candidates using highly parallelized genome editing.", "authors": [{"family": "Mattsson", "given": "Jenny", "initials": "J"}, {"family": "Ekdahl", "given": "Ludvig", "initials": "L"}, {"family": "Junghus", "given": "Fredrik", "initials": "F"}, {"family": "Ajore", "given": "Ram", "initials": "R"}, {"family": "Erlandsson", "given": "Eva", "initials": "E"}, {"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": "Frend\u00e9us", "given": "Bj\u00f6rn", "initials": "B"}, {"family": "Teige", "given": "Ingrid", "initials": "I"}, {"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": "2021-02-24", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "12", "issue": "1", "pages": "1277", "issn-l": "2041-1723"}, "abstract": "Therapeutic antibodies are transforming the treatment of cancer and autoimmune diseases. Today, a key challenge is finding antibodies against new targets. Phenotypic discovery promises to achieve this by enabling discovery of antibodies with therapeutic potential without specifying the molecular target a priori. Yet, deconvoluting the targets of phenotypically discovered antibodies remains a bottleneck; efficient deconvolution methods are needed for phenotypic discovery to reach its full potential. Here, we report a comprehensive investigation of a target deconvolution approach based on pooled CRISPR/Cas9. Applying this approach within three real-world phenotypic discovery programs, we rapidly deconvolute the targets of 38 of 39 test antibodies (97%), a success rate far higher than with existing approaches. Moreover, the approach scales well, requires much less work, and robustly identifies antibodies against the major histocompatibility complex. Our data establish CRISPR/Cas9 as a highly efficient target deconvolution approach, with immediate implications for the development of antibody-based drugs.", "doi": "10.1038/s41467-021-21518-4", "pmid": "33627649", "labels": {"Abhishek Niroula": null, "DDLS Fellow": null}, "xrefs": [{"db": "pmc", "key": "PMC7904777"}, {"db": "pii", "key": "10.1038/s41467-021-21518-4"}], "notes": [], "created": "2023-11-20T11:27:48.448Z", "modified": "2023-11-20T11:27:48.610Z"}]}