{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lundtoft C"],"funding":["Reumatikerförbundet","Svenska Läkaresällskapet","Medical Research Council","Karolinska Institutet","Novo Nordisk Fonden"],"pagination":["1440-1450"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9543510"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["74(8)"],"pubmed_abstract":["<h4>Objective</h4>Copy number variation of the C4 complement components, C4A and C4B, has been associated with systemic inflammatory autoimmune diseases. This study was undertaken to investigate whether C4 copy number variation is connected to the autoimmune repertoire in systemic lupus erythematosus (SLE), primary Sjögren's syndrome (SS), or myositis.<h4>Methods</h4>Using targeted DNA sequencing, we determined the copy number and genetic variants of C4 in 2,290 well-characterized Scandinavian patients with SLE, primary SS, or myositis and 1,251 healthy controls.<h4>Results</h4>A prominent relationship was observed between C4A copy number and the presence of SSA/SSB autoantibodies, which was shared between the 3 diseases. The strongest association was detected in patients with autoantibodi"],"journal":["Arthritis & rheumatology (Hoboken, N.J.)"],"pubmed_title":["Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases."],"pmcid":["PMC9543510"],"funding_grant_id":["MR/N003322/1","NNF17OC0027498","NNF14OC0011003","NNF16OC0021532","NNF18OC0034518","NNF13OC0005975"],"pubmed_authors":["ImmunoArray Development Consortium","Pucholt P","Hanna B","Husmark T","Jonsson R","Norheim KB","Molberg O","Nordmark G","Palm O","Lindblad-Toh K","Bengtsson AA","Almlof J","Landegren N","Lundstrom E","Syvanen AC","DISSECT Consortium","Chinoy H","Martin M","Kozyrev SV","Svard A","Sjowall C","Yavuz S","Tjarnlund A","Vasaitis L","Theander E","Ramirez Sepulveda JI","Forsblad-d'Elia H","Notarnicola A","Lamb J","Svenungsson E","Brokstad KA","Brun JG","Jensen JL","Ronnblom L","Bengtsson C","Jalal A","Imgenberg-Kreuz J","Andersson G","Andersson H","Kampe O","Soderkvist P","Diederichsen LP","Hjorton K","Gunnarsson I","Hellstrom H","Mohammad A","Auglaend Johnsen SJ","Wahren-Herlenius M","Baecklund E","Eriksson P","Skarstein K","Lundberg IE","Jonsson MV","Leonard D","Almlof JC","Skogh T","Bucher SM","Rothwell S","Lundtoft C","Nordin J","Liden M","Johnsen SJ","Nilsson B","Karlsson A","Alexsson A","Meadows JRS","Dastmalchi M","Pielberg GR","Ahlgren KM","Jonsen A","Kvarnstrom M","Rantapaa-Dahlqvist S","Thorlacius GE","Magnusson Bucher S","Enocsson H","Diaz-Gallo LM","Rosenberg LH","Muren E","Sandling JK","Hagberg N","Bianchi M","Eloranta ML","Aqrawi LA","Lobell A","Blom AM","Mandl T","Appel S","Haggstrom A","Hallengren CS","Omdal R","Hammenfors D","Cooper RG","Wettero J"],"additional_accession":[]},"is_claimable":false,"name":"Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases.","description":"<h4>Objective</h4>Copy number variation of the C4 complement components, C4A and C4B, has been associated with systemic inflammatory autoimmune diseases. This study was undertaken to investigate whether C4 copy number variation is connected to the autoimmune repertoire in systemic lupus erythematosus (SLE), primary Sjögren's syndrome (SS), or myositis.<h4>Methods</h4>Using targeted DNA sequencing, we determined the copy number and genetic variants of C4 in 2,290 well-characterized Scandinavian patients with SLE, primary SS, or myositis and 1,251 healthy controls.<h4>Results</h4>A prominent relationship was observed between C4A copy number and the presence of SSA/SSB autoantibodies, which was shared between the 3 diseases. The strongest association was detected in patients with autoantibodi","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2026-05-31T16:08:17.653Z","creation":"2025-02-19T01:28:06.171Z"},"accession":"S-EPMC9543510","cross_references":{"pubmed":["35315244"],"doi":["10.1002/art.42122"]}}