Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjögren's Syndrome,Arthritis & Rheumatology

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Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjögren's Syndrome
Arthritis & Rheumatology ( IF 13.3 ) Pub Date : 2022-06-21 , DOI: 10.1002/art.42270
Christian Lundtoft ₁ , Christopher Sjöwall ₂ , Solbritt Rantapää-Dahlqvist ₃ , Anders A Bengtsson ₄ , Andreas Jönsen ₄ , Pascal Pucholt ₁ , Yee Ling Wu ₅ , Emeli Lundström ₆ , Maija-Leena Eloranta ₁ , Iva Gunnarsson ₆ , Eva Baecklund ₁ , Roland Jonsson ₇ , Daniel Hammenfors ₈ , Helena Forsblad-d'Elia ₉ , Per Eriksson ₂ , Thomas Mandl ₁₀ , Sara Bucher ₁₁ , Katrine B Norheim ₁₂ , Svein Joar Auglaend Johnsen ₁₃ , Roald Omdal ₁₄ , Marika Kvarnström ₁₅ , Marie Wahren-Herlenius ₁₆ , Lennart Truedsson ₁₇ , Bo Nilsson ₁₈ , Sergey V Kozyrev ₁₉ , Matteo Bianchi ₁₉ , Kerstin Lindblad-Toh ₂₀ , , Chack-Yung Yu ₂₁ , Gunnel Nordmark ₁ , Johanna K Sandling ₁ , Elisabet Svenungsson ₆ , Dag Leonard ₁ , Lars Rönnblom ₁

Affiliation

Department of Medical Sciences, Rheumatology, Uppsala University, Uppsala, Sweden.
Division of Inflammation and Infection, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.
Department of Public Health and Clinical Medicine/Rheumatology, Umeå University, Umeå, Sweden.
Department of Clinical Sciences Lund, Rheumatology, Lund University, and Skåne University Hospital, Lund, Sweden.
Center for Microbial Pathogenesis, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, and the Department of Microbiology and Immunology, Loyola University, Chicago, Illinois.
Division of Rheumatology, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Bergen, Norway.
Department of Rheumatology, Haukeland University Hospital, Bergen, Norway.
Department of Rheumatology and Inflammation Research, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Division of Rheumatology, Department of Clinical Sciences Malmö, Lund University, and Novartis, Malmö, Sweden.
Department of Rheumatology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
Department of Rheumatology, Stavanger University Hospital, Stavanger, Norway, and the Institute of Clinical Science, University of Bergen, Bergen, Norway.
Department of Rheumatology, Stavanger University Hospital, Stavanger, Norway.
Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Bergen, Norway, and the Department of Rheumatology, Stavanger University Hospital, Stavanger, Norway.
Division of Rheumatology, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden, and the Academic Specialist Center, Center for Rheumatology, Stockholm Health Services, Stockholm, Sweden.
Division of Rheumatology, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden, and Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Bergen, Norway.
Department of Microbiology, Immunology, and Glycobiology, Lund University Hospital, Lund, Sweden.
Department of Immunology, Genetics, and Pathology, Uppsala University, Uppsala, Sweden.
Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden, and Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Center for Microbial Pathogenesis, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio.

Complete genetic deficiency of the complement component C2 is a strong risk factor for monogenic systemic lupus erythematosus (SLE), but whether heterozygous C2 deficiency adds to the risk of SLE or primary Sjögren's syndrome (SS) has not been studied systematically. This study was undertaken to investigate potential associations of heterozygous C2 deficiency and C4 copy number variation with clinical manifestations in patients with SLE and patients with primary SS.

中文翻译：

经典补体途径中的联合遗传缺陷与系统性红斑狼疮和原发性干燥综合征的风险密切相关

补体成分C2的完全遗传缺陷是单基因系统性红斑狼疮 (SLE) 的一个重要危险因素，但杂合子C2缺陷是否会增加 SLE 或原发性干燥综合征 (SS) 的风险尚未得到系统研究。本研究旨在调查杂合子C2缺陷和C4拷贝数变异与 SLE 患者和原发性 SS 患者临床表现的潜在关联。

更新日期：2022-06-21

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