{"doi":"10.17615/pbgt-kq29","title":"Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis","abstract":"A genome wide association scan of ~6.6 million genotyped or imputed variants in 882 Sardinian Multiple Sclerosis (MS) cases and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (overall P =1.60 × 10-10). CBLB encodes a negative regulator of adaptive immune responses and mice lacking the orthologue are prone to experimental autoimmune encephalomyelitis, the animal model of MS.","journal":"UNC Libraries","year":2020,"id":139356,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.947,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":70739,"name":"Andrea Maschio","orcid":"0000-0002-4238-9144","position":1,"is_corresponding":false},{"id":55374,"name":"Magdalena Żołędziewska","orcid":"0000-0002-3033-6133","position":2,"is_corresponding":false},{"id":602126,"name":"Fausto Poddie","orcid":"0000-0003-2893-9549","position":3,"is_corresponding":false},{"id":602127,"name":"Maura Pugliatti","orcid":"0000-0001-9396-8683","position":4,"is_corresponding":false},{"id":218099,"name":"Mariano Dei","orcid":"0000-0002-7404-508X","position":5,"is_corresponding":false},{"id":602128,"name":"Stefano Sotgiu","orcid":"0000-0002-0389-1035","position":6,"is_corresponding":false},{"id":602713,"name":"Paola Ferrigno","orcid":null,"position":7,"is_corresponding":false},{"id":218104,"name":"Maristella Pitzalis","orcid":"0000-0003-4975-6987","position":8,"is_corresponding":false},{"id":262278,"name":"Laura Morelli","orcid":"0000-0001-5759-1807","position":9,"is_corresponding":false},{"id":35194,"name":"Liming Liang","orcid":"0000-0001-8261-3174","position":10,"is_corresponding":false},{"id":21821,"name":"Serena Sanna","orcid":"0000-0002-3768-1749","position":11,"is_corresponding":false},{"id":602714,"name":"Maria Cristina Melis","orcid":null,"position":12,"is_corresponding":false},{"id":218105,"name":"Francesca Deidda","orcid":null,"position":13,"is_corresponding":false},{"id":602715,"name":"Gianna Costa","orcid":null,"position":14,"is_corresponding":false},{"id":602129,"name":"Patrizia Zavattari","orcid":"0000-0002-0481-092X","position":15,"is_corresponding":false},{"id":602716,"name":"Elisa Deriu","orcid":null,"position":16,"is_corresponding":false},{"id":21681,"name":"Eleonora Porcu","orcid":"0000-0002-5892-480X","position":17,"is_corresponding":false},{"id":602717,"name":"Michele Bajorek","orcid":null,"position":18,"is_corresponding":false},{"id":348226,"name":"Michael B. Whalen","orcid":"0000-0001-7300-8511","position":19,"is_corresponding":false},{"id":602718,"name":"Loredana Moi","orcid":null,"position":20,"is_corresponding":false},{"id":218098,"name":"Sandra Lai","orcid":"0000-0003-4198-9989","position":21,"is_corresponding":false},{"id":602130,"name":"Gabriele Farina","orcid":"0000-0002-3976-0061","position":22,"is_corresponding":false},{"id":533387,"name":"Fabio Busonero","orcid":"0000-0003-0921-2045","position":23,"is_corresponding":false},{"id":289311,"name":"Eleonora Cocco","orcid":"0000-0002-3878-8820","position":24,"is_corresponding":false},{"id":568354,"name":"Gianmauro Cuccuru","orcid":"0000-0002-5335-545X","position":25,"is_corresponding":false},{"id":14663,"name":"Antonella Mulas","orcid":"0000-0002-6856-1483","position":26,"is_corresponding":false},{"id":218093,"name":"Carlo Sidore","orcid":"0000-0001-7504-7477","position":27,"is_corresponding":false},{"id":602719,"name":"M Francesca Urru","orcid":null,"position":28,"is_corresponding":false},{"id":602720,"name":"Ilenia Zara","orcid":null,"position":29,"is_corresponding":false},{"id":463453,"name":"Yun Li","orcid":"0000-0001-8414-2724","position":30,"is_corresponding":false},{"id":602131,"name":"Raffaele Murru","orcid":"0000-0001-8830-5084","position":31,"is_corresponding":false},{"id":602712,"name":"Maria Anna Satta","orcid":null,"position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-18T23:17:10.185988Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}