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"https://publications-affiliated.scilifelab.se/researcher/a7bfd631ded14746be0b94b8f1cac968.json"}}, {"family": "Zhang", "given": "Cheng", "initials": "C", "orcid": "0000-0002-3721-8586", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f46e4161be08458994efddb75ed75874.json"}}, {"family": "Zhong", "given": "Wen", "initials": "W", "orcid": "0000-0002-7422-6104", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d6ffb1140aaa42c5ac63fe76653fc63b.json"}}, {"family": "Zwahlen", "given": "Martin", "initials": "M", "orcid": "0000-0002-0064-4776", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/456805fa3f4f47328f3923b78bf66996.json"}}, {"family": "von Feilitzen", "given": "Kalle", "initials": "K", "orcid": "0000-0002-0257-7554", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f4c4545bd2324b7d9b6696dab5bcb7dd.json"}}, {"family": "Nilsson", "given": "Peter", "initials": "P", "orcid": "0000-0002-4657-8532", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3db33fa3edb94febb8be7927a16838d0.json"}}, {"family": "Edfors", "given": "Fredrik", "initials": "F", "orcid": "0000-0002-0017-7987", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e213b04f8984c8eb00c68f5bc2f6a36.json"}}, {"family": "Uhl\u00e9n", "given": "Mathias", "initials": "M", "orcid": "0000-0002-4858-8056", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ea446aa574042a295d5f69437402f76.json"}}], "type": "journal article", "published": "2025-12-18", "journal": {"title": "Science (New York, N.Y.)", "issn": "1095-9203", "volume": "390", "issue": "6779", "pages": "eadx2678", "issn-l": "0036-8075"}, "abstract": "The human blood proteome provides a holistic readout of health states through the assessment of thousands of circulating proteins. In this study, we present a pan-disease resource to enable the study of diverse disease phenotypes within a harmonized proteomics dataset. By profiling protein concentrations across 59 diseases and healthy cohorts, we identified proteins associated with age, sex, and body mass index, as well as disease-specific signatures. This study highlights shared and distinct protein patterns across conditions, demonstrating the power of a unified proteomics approach to uncover biological insights. The dataset, covering 8262 individuals and up to 5416 proteins, serves as an online resource for exploring disease-specific protein profiles and advancing precision medicine research.", "doi": "10.1126/science.adx2678", "pmid": "41066540", "labels": {"SciLifeLab Fellow": "", "Adil Mardinoglu": ""}, "xrefs": [], "notes": [], "created": "2026-09-23T08:47:54.949Z", "modified": "2026-09-23T08:47:57.223Z"}, {"entity": "publication", "iuid": "93c82c92a6ac43a5af019513e940cdaf", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/93c82c92a6ac43a5af019513e940cdaf.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/93c82c92a6ac43a5af019513e940cdaf"}}, "title": "Single cell-resolution in situ sequencing elucidates spatial dynamics of multiple sclerosis lesion and disease evolution", "authors": [{"family": "Langseth", "given": "C M", "initials": "CM", "orcid": "0000-0003-2230-8594", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4d73b090432c4a5397dfe4d8433c72cf.json"}}, {"family": "Kukanja", "given": "P", "initials": "P", "orcid": "0000-0003-1228-5923", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fb68d959131542c0bf7e8335a45cadfc.json"}}, {"family": "Rubio Rodr\u00edguez-Kirby", "given": "L A", "initials": "LA", "orcid": "0000-0003-4467-2661", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7432077dcb1b4b1d80fbac266662466e.json"}}, {"family": "Agirre", "given": "E", "initials": "E", "orcid": "0000-0002-5012-0305", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f5a19b80f564d4eb78eb9c71bb1cc8f.json"}}, {"family": "Raman", "given": "A", "initials": "A"}, {"family": "Yokota", "given": "C", "initials": "C"}, {"family": "Avenel", "given": "C", "initials": "C", "orcid": "0000-0002-1835-921X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b65fab9c103c4551b457a801988ce728.json"}}, {"family": "Tiklov\u00e1", "given": "K", "initials": "K", "orcid": "0000-0002-9529-4552", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0ca546d6a51643bf847543032c82dd4c.json"}}, {"family": "Guerreiro-Cacais", "given": "A O", "initials": "AO", "orcid": "0000-0002-4561-2823", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c2ecf483cb7442b9de5c99dcc11c1a5.json"}}, {"family": "Olsson", "given": "T", "initials": "T", "orcid": "0000-0002-2938-1877", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2003b9ba415e422fa27b0c7fdce9497f.json"}}, {"family": "Hilscher", "given": "M M", "initials": "MM", "orcid": "0000-0001-7782-0830", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ec435b1759284c98aa17c7dfd11c3617.json"}}, {"family": "Nilsson", "given": "M", "initials": "M", "orcid": "0000-0001-9985-0387", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3311155f09a64b4f88d673da2a40627b.json"}}, {"family": "Castelo-Branco", "given": "G", "initials": "G", "orcid": "0000-0003-2247-9393", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50ede6d74fde420f8139cef3f0a1ff5e.json"}}], "type": "posted-content", "published": "2023-06-30", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2023.06.29.547074", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T13:51:52.177Z", "modified": "2026-09-23T13:51:52.345Z"}, {"entity": "publication", "iuid": "f558da18bac541259b0db98a200aca1e", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/f558da18bac541259b0db98a200aca1e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/f558da18bac541259b0db98a200aca1e"}}, "title": "Cross-reactive EBNA1 immunity targets alpha-crystallin B and is associated with multiple sclerosis.", "authors": [{"family": "Thomas", "given": "Olivia G", "initials": "OG", "orcid": "0000-0002-2011-1344", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fa20c46e0931406cafb75381f1fbabb8.json"}}, {"family": "Bronge", "given": "Mattias", "initials": "M", "orcid": "0000-0002-1258-3982", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cf585179ce31448a90a9b6b585214637.json"}}, {"family": "Tengvall", "given": "Katarina", "initials": "K", "orcid": "0000-0003-0424-3571", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b8f6227041cc44b1bd163c99956bba78.json"}}, {"family": "Akpinar", "given": "Birce", "initials": "B"}, {"family": "Nilsson", "given": "Ola B", "initials": "OB"}, {"family": "Holmgren", "given": "Erik", "initials": "E", "orcid": "0000-0002-2656-1864", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae381ba7a9624e0c9361a56bcf2fea74.json"}}, {"family": "Hessa", "given": "Tara", "initials": "T"}, {"family": "Gafvelin", "given": "Guro", "initials": "G", "orcid": "0000-0003-1618-4011", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4d527debbb4246ddb4d35dd6b0903028.json"}}, {"family": "Khademi", "given": "Mohsen", "initials": "M", "orcid": "0000-0003-0801-1444", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/22f8dcc673264db484e284e484bc7311.json"}}, {"family": "Alfredsson", "given": "Lars", "initials": "L", "orcid": "0000-0003-1688-6697", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3066044ee78743db8fbd2a94e24059cf.json"}}, {"family": "Martin", "given": "Roland", "initials": "R", "orcid": "0000-0002-0982-1329", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c05061445fcc4a5997a39a38cabcb3a3.json"}}, {"family": "Guerreiro-Cacais", "given": "Andr\u00e9 Ortlieb", "initials": "AO", "orcid": "0000-0002-4561-2823", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c2ecf483cb7442b9de5c99dcc11c1a5.json"}}, {"family": "Gr\u00f6nlund", "given": "Hans", "initials": "H", "orcid": "0000-0003-4882-7624", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b91c9201b4d64b5b8d000d1f89e53be6.json"}}, {"family": "Olsson", "given": "Tomas", "initials": "T", "orcid": "0000-0002-2938-1877", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2003b9ba415e422fa27b0c7fdce9497f.json"}}, {"family": "Kockum", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-0867-4726", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/044ff0f987a642c7aa2aef33fe1d7ecd.json"}}], "type": "journal article", "published": "2023-05-19", "journal": {"title": "Sci Adv", "issn": "2375-2548", "volume": "9", "issue": "20", "pages": "eadg3032", "issn-l": "2375-2548"}, "abstract": "Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, for which and Epstein-Barr virus (EBV) infection is a likely prerequisite. Due to the homology between Epstein-Barr nuclear antigen 1 (EBNA1) and alpha-crystallin B (CRYAB), we examined antibody reactivity to EBNA1 and CRYAB peptide libraries in 713 persons with MS (pwMS) and 722 matched controls (Con). Antibody response to CRYAB amino acids 7 to 16 was associated with MS (OR = 2.0), and combination of high EBNA1 responses with CRYAB positivity markedly increased disease risk (OR = 9.0). Blocking experiments revealed antibody cross-reactivity between the homologous EBNA1 and CRYAB epitopes. Evidence for T cell cross-reactivity was obtained in mice between EBNA1 and CRYAB, and increased CRYAB and EBNA1 CD4+ T cell responses were detected in natalizumab-treated pwMS. This study provides evidence for antibody cross-reactivity between EBNA1 and CRYAB and points to a similar cross-reactivity in T cells, further demonstrating the role of EBV adaptive immune responses in MS development.", "doi": "10.1126/sciadv.adg3032", "pmid": "37196088", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10191428"}], "notes": [], "created": "2026-09-23T07:29:43.761Z", "modified": "2026-09-23T07:29:44.164Z"}, {"entity": "publication", "iuid": "19f1838c0542481484e93214d3cd6b42", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/19f1838c0542481484e93214d3cd6b42.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/19f1838c0542481484e93214d3cd6b42"}}, "title": "Identification of four novel T cell autoantigens and personal autoreactive profiles in multiple sclerosis.", "authors": [{"family": "Bronge", "given": "Mattias", "initials": "M", "orcid": "0000-0002-1258-3982", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cf585179ce31448a90a9b6b585214637.json"}}, {"family": "H\u00f6gelin", "given": "Klara Asplund", "initials": "KA"}, {"family": "Thomas", "given": "Olivia G", "initials": "OG", "orcid": "0000-0002-2011-1344", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fa20c46e0931406cafb75381f1fbabb8.json"}}, {"family": "Ruhrmann", "given": "Sabrina", "initials": "S"}, {"family": "Carvalho-Queiroz", "given": "Claudia", "initials": "C"}, {"family": "Nilsson", "given": "Ola B", "initials": "OB"}, {"family": "Kaiser", "given": "Andreas", "initials": "A"}, {"family": "Zeitelhofer", "given": "Manuel", "initials": "M"}, {"family": "Holmgren", "given": "Erik", "initials": "E", "orcid": "0000-0002-2656-1864", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae381ba7a9624e0c9361a56bcf2fea74.json"}}, {"family": "Linnerbauer", "given": "Mathias", "initials": "M", "orcid": "0000-0002-5528-5141", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7caf4ce60f6441089c2df1a02e4379b6.json"}}, {"family": "Adzemovic", "given": "Milena Z", "initials": "MZ"}, {"family": "Hellstr\u00f6m", "given": "Cecilia", "initials": "C", "orcid": "0000-0003-0880-5375", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a4f6cc50f094d36a281821ca78821a0.json"}}, {"family": "Jelcic", "given": "Ivan", "initials": "I", "orcid": "0000-0002-6187-7098", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3317b07cac4b4d3d8a8bba30a02506db.json"}}, {"family": "Liu", "given": "Hao", "initials": "H", "orcid": "0000-0001-6572-2870", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8fd3a1e88f8b4363950aedfe5fe07383.json"}}, {"family": "Nilsson", "given": "Peter", "initials": "P", "orcid": "0000-0002-4657-8532", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3db33fa3edb94febb8be7927a16838d0.json"}}, {"family": "Hillert", "given": "Jan", "initials": "J", "orcid": "0000-0002-7386-6732", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6f661fc2c98a4568a0fae89601b64f33.json"}}, {"family": "Brundin", "given": "Lou", "initials": "L", "orcid": "0000-0003-4408-7817", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/285bd0f3b11147c2a547a3239ea5f226.json"}}, {"family": "Fink", "given": "Katharina", "initials": "K"}, {"family": "Kockum", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-0867-4726", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/044ff0f987a642c7aa2aef33fe1d7ecd.json"}}, {"family": "Tengvall", "given": "Katarina", "initials": "K", "orcid": "0000-0003-0424-3571", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b8f6227041cc44b1bd163c99956bba78.json"}}, {"family": "Martin", "given": "Roland", "initials": "R"}, {"family": "Tegel", "given": "Hanna", "initials": "H", "orcid": "0000-0002-7067-9173", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7b9de19b82b4406d8904cb937a466e8b.json"}}, {"family": "Gr\u00e4slund", "given": "Torbj\u00f6rn", "initials": "T", "orcid": "0000-0002-5391-600X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/afff2431691348539334ab0e86158505.json"}}, {"family": "Al Nimer", "given": "Faiez", "initials": "F", "orcid": "0000-0003-0937-5995", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/00758cc3da934cdbb9cb00c1df4b700f.json"}}, {"family": "Guerreiro-Cacais", "given": "Andr\u00e9 Ortlieb", "initials": "AO", "orcid": "0000-0002-4561-2823", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c2ecf483cb7442b9de5c99dcc11c1a5.json"}}, {"family": "Khademi", "given": "Mohsen", "initials": "M", "orcid": "0000-0003-0801-1444", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/22f8dcc673264db484e284e484bc7311.json"}}, {"family": "Gafvelin", "given": "Guro", "initials": "G", "orcid": "0000-0003-1618-4011", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4d527debbb4246ddb4d35dd6b0903028.json"}}, {"family": "Olsson", "given": "Tomas", "initials": "T", "orcid": "0000-0002-2938-1877", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2003b9ba415e422fa27b0c7fdce9497f.json"}}, {"family": "Gr\u00f6nlund", "given": "Hans", "initials": "H", "orcid": "0000-0003-4882-7624", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b91c9201b4d64b5b8d000d1f89e53be6.json"}}], "type": "journal article", "published": "2022-04-29", "journal": {"title": "Sci Adv", "issn": "2375-2548", "volume": "8", "issue": "17", "pages": "eabn1823", "issn-l": "2375-2548"}, "abstract": "Multiple sclerosis (MS) is an inflammatory disease of the central nervous system (CNS), in which pathological T cells, likely autoimmune, play a key role. Despite its central importance, the autoantigen repertoire remains largely uncharacterized. Using a novel in vitro antigen delivery method combined with the Human Protein Atlas library, we screened for T cell autoreactivity against 63 CNS-expressed proteins. We identified four previously unreported autoantigens in MS: fatty acid-binding protein 7, prokineticin-2, reticulon-3, and synaptosomal-associated protein 91, which were verified to induce interferon-\u03b3 responses in MS in two cohorts. Autoreactive profiles were heterogeneous, and reactivity to several autoantigens was MS-selective. Autoreactive T cells were predominantly CD4+ and human leukocyte antigen-DR restricted. Mouse immunization induced antigen-specific responses and CNS leukocyte infiltration. This represents one of the largest systematic efforts to date in the search for MS autoantigens, demonstrates the heterogeneity of autoreactive profiles, and highlights promising targets for future diagnostic tools and immunomodulatory therapies in MS.", "doi": "10.1126/sciadv.abn1823", "pmid": "35476434", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9045615"}], "notes": [], "created": "2026-09-23T08:48:17.478Z", "modified": "2026-09-23T08:48:17.929Z"}, {"entity": "publication", "iuid": "736d3dd3626b4f45954cdabb868f5905", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/736d3dd3626b4f45954cdabb868f5905.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/736d3dd3626b4f45954cdabb868f5905"}}, "title": "Microglial autophagy-associated phagocytosis is essential for recovery from neuroinflammation.", "authors": [{"family": "Berglund", "given": "Rasmus", "initials": "R", "orcid": "0000-0003-0252-7730", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/22c273a99e1b40b691a8a6e4ef4d8d71.json"}}, {"family": "Guerreiro-Cacais", "given": "Andre Ortlieb", "initials": "AO", "orcid": "0000-0002-4561-2823", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c2ecf483cb7442b9de5c99dcc11c1a5.json"}}, {"family": "Adzemovic", "given": "Milena Z", "initials": "MZ"}, {"family": "Zeitelhofer", "given": "Manuel", "initials": "M"}, {"family": "Lund", "given": "Harald", "initials": "H", "orcid": "0000-0001-8046-0805", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/447fceec6f074e869ffb736d5dab13c1.json"}}, {"family": "Ewing", "given": "Ewoud", "initials": "E", "orcid": "0000-0001-8644-366X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1deaf3023dce4beea07ef875cdd9d2e0.json"}}, {"family": "Ruhrmann", "given": "Sabrina", "initials": "S"}, {"family": "Nutma", "given": "Erik", "initials": "E"}, {"family": "Parsa", "given": "Roham", "initials": "R", "orcid": "0000-0002-0864-6098", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a3cceee5c95349deb01030ee6c21a0f1.json"}}, {"family": "Thessen-Hedreul", "given": "Melanie", "initials": "M"}, {"family": "Amor", "given": "Sandra", "initials": "S", "orcid": "0000-0001-6169-9845", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8523f177f5d4b2ca288b1deda7d5beb.json"}}, {"family": "Harris", "given": "Robert A", "initials": "RA", "orcid": "0000-0003-4990-509X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7558fb5ceba54b689244b4e771714b76.json"}}, {"family": "Olsson", "given": "Tomas", "initials": "T", "orcid": "0000-0002-2938-1877", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2003b9ba415e422fa27b0c7fdce9497f.json"}}, {"family": "Jagodic", "given": "Maja", "initials": "M", "orcid": "0000-0003-0756-889X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0e6419051c5746a8bf3fe7ce3d841a2a.json"}}], "type": "journal article", "published": "2020-10-16", "journal": {"title": "Sci Immunol", "issn": "2470-9468", "volume": "5", "issue": "52", "issn-l": "2470-9468"}, "abstract": "Multiple sclerosis (MS) is a leading cause of incurable progressive disability in young adults caused by inflammation and neurodegeneration in the central nervous system (CNS). The capacity of microglia to clear tissue debris is essential for maintaining and restoring CNS homeostasis. This capacity diminishes with age, and age strongly associates with MS disease progression, although the underlying mechanisms are still largely elusive. Here, we demonstrate that the recovery from CNS inflammation in a murine model of MS is dependent on the ability of microglia to clear tissue debris. Microglia-specific deletion of the autophagy regulator Atg7, but not the canonical macroautophagy protein Ulk1, led to increased intracellular accumulation of phagocytosed myelin and progressive MS-like disease. This impairment correlated with a microglial phenotype previously associated with neurodegenerative pathologies. Moreover, Atg7-deficient microglia showed notable transcriptional and functional similarities to microglia from aged wild-type mice that were also unable to clear myelin and recover from disease. In contrast, induction of autophagy in aged mice using the disaccharide trehalose found in plants and fungi led to functional myelin clearance and disease remission. Our results demonstrate that a noncanonical form of autophagy in microglia is responsible for myelin degradation and clearance leading to recovery from MS-like disease and that boosting this process has a therapeutic potential for age-related neuroinflammatory conditions.", "doi": "10.1126/sciimmunol.abb5077", "pmid": "33067381", "labels": [], "xrefs": [{"db": "pii", "key": "5/52/eabb5077"}], "notes": [], "created": "2026-09-23T07:28:19.594Z", "modified": "2026-09-23T07:28:19.885Z"}, {"entity": "publication", "iuid": "97fbf62395fa47c09afd46af530e808e", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/97fbf62395fa47c09afd46af530e808e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/97fbf62395fa47c09afd46af530e808e"}}, "title": "Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.", "authors": [{"family": "Lundtoft", "given": "Christian", "initials": "C", "orcid": "0000-0001-5872-4253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f22eef009e944f069fe779e7f3cb2eff.json"}}, {"family": "Pucholt", "given": "Pascal", "initials": "P", "orcid": "0000-0003-3342-1373", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b8d564c4e36f451f9b78f563c9e8fa07.json"}}, {"family": "Imgenberg-Kreuz", "given": "Juliana", "initials": "J", "orcid": "0000-0002-7230-8990", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b94ba6e41ec348138bba169099da410d.json"}}, {"family": "Carlsson-Alml\u00f6f", "given": "Jonas", "initials": "J", "orcid": "0000-0002-1211-9821", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/073ba40c0eba46f0a37f9d47b23d6b18.json"}}, {"family": "Eloranta", "given": "Maija-Leena", "initials": "ML", "orcid": "0000-0002-8454-1351", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e73543dcfc754a96a6102a948e961a43.json"}}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}, {"family": "Nordmark", "given": "Gunnel", "initials": "G", "orcid": "0000-0002-3829-7431", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f618934952594d76a747bcbe2c27bbf2.json"}}, {"family": "Sandling", "given": "Johanna K", "initials": "JK", "orcid": "0000-0003-1382-2321", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c5bbdb0cf40c48198ea04ede2fb33377.json"}}, {"family": "Kockum", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-0867-4726", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/044ff0f987a642c7aa2aef33fe1d7ecd.json"}}, {"family": "Olsson", "given": "Tomas", "initials": "T", "orcid": "0000-0002-2938-1877", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2003b9ba415e422fa27b0c7fdce9497f.json"}}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L", "orcid": "0000-0001-9403-6503", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5f7ec7a7befd44cc988091ba0858d3c0.json"}}, {"family": "Hagberg", "given": "Niklas", "initials": "N", "orcid": "0000-0003-2064-2716", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/be3f2835d0c04a85af2d67c158b17b06.json"}}], "type": "journal article", "published": "2020-10-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "16", "issue": "10", "pages": "e1009199", "issn-l": "1553-7390"}, "abstract": "Interferons (IFNs) are cytokines that are central to the host defence against viruses and other microorganisms. If not properly regulated, IFNs may contribute to the pathogenesis of inflammatory autoimmune, or infectious diseases. To identify genetic polymorphisms regulating the IFN system we performed an unbiased genome-wide protein-quantitative trait loci (pQTL) mapping of cell-type specific type I and type II IFN receptor levels and their responses in immune cells from 303 healthy individuals. Seven genome-wide significant (p < 5.0E-8) pQTLs were identified. Two independent SNPs that tagged the multiple sclerosis (MS)-protective HLA class I alleles A*02/A*68 and B*44, respectively, were associated with increased levels of IFNAR2 in B and T cells, with the most prominent effect in IgD-CD27+ memory B cells. The increased IFNAR2 levels in B cells were replicated in cells from an independent set of healthy individuals and in MS patients. Despite increased IFNAR2 levels, B and T cells carrying the MS-protective alleles displayed a reduced response to type I IFN stimulation. Expression and methylation-QTL analysis demonstrated increased mRNA expression of the pseudogene HLA-J in B cells carrying the MS-protective class I alleles, possibly driven via methylation-dependent transcriptional regulation. Together these data suggest that the MS-protective effects of HLA class I alleles are unrelated to their antigen-presenting function, and propose a previously unappreciated function of type I IFN signalling in B and T cells in MS immune-pathogenesis.", "doi": "10.1371/journal.pgen.1009199", "pmid": "33104735", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7644105"}, {"db": "pii", "key": "PGENETICS-D-20-01001"}], "notes": [], "created": "2026-09-23T10:05:50.292Z", "modified": "2026-09-23T10:05:50.443Z"}]}