Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjogren's Syndrome

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Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjogren's Syndrome

Lundtoft, Christian (författare): Uppsala universitet,Reumatologi

Sjöwall, Christopher (författare): Linköpings universitet,Avdelningen för inflammation och infektion,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland,Division of Inflammation and Infection, Department of Biomedical and Clinical Sciences Linköping University Linköping Sweden

Rantapää-Dahlqvist, Solbritt (författare): Umeå universitet,Reumatologi,Umea Univ, Sweden,Department of Public Health and Clinical Medicine/Rheumatology Umeå University Umeå Sweden

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Bengtsson, A. A. (författare): Department of Clinical Sciences Lund, Rheumatology, Lund University, and Skåne University Hospital, Lund, Sweden,Lund Univ, Sweden; Skane Univ Hosp, Sweden

Jonsen, A. (författare): Department of Clinical Sciences Lund, Rheumatology, Lund University, and Skåne University Hospital, Lund, Sweden,Department of Rheumatology, Stavanger University Hospital, Stavanger, Norway,Lund Univ, Sweden; Skane Univ Hosp, Sweden,Stavanger Univ Hosp, Norway

Pucholt, Pascal, Dr, 1985- (författare): Uppsala universitet,Reumatologi

Wu, Y. L. (författare): Center for Microbial Pathogenesis, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio, and the Department of Microbiology and Immunology, Loyola University, IL, Chicago, United States,Nationwide Childrens Hosp, OH USA; Loyola Univ, IL 60611 USA,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

Lundstrom, E. (författare): Division of Rheumatology, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden,Karolinska Univ Hosp, Sweden

Eloranta, Maija-Leena (författare): Uppsala universitet,Reumatologi

Gunnarsson, I. (författare): Karolinska Institutet

Baecklund, Eva, 1956- (författare): Uppsala universitet,Reumatologi

Jonsson, R. (författare): Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Bergen, Norway,Univ Bergen, Norway

Hammenfors, D. (författare): Department of Rheumatology, Haukeland University Hospital, Bergen, Norway,Haukeland Hosp, Norway

Forsblad d'Elia, Helena, 1961 (författare): Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institute of Medicine, Department of Rheumatology and Inflammation Research,Department of Rheumatology and Inflammation Research, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden,Univ Gothenburg, Sweden

Eriksson, Per (författare): Linköpings universitet,Avdelningen för inflammation och infektion,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland,Division of Inflammation and Infection, Department of Biomedical and Clinical Sciences Linköping University Linköping Sweden

Mandl, T. (författare): Division of Rheumatology, Department of Clinical Sciences Malmö, Lund University, and Novartis, Malmö, Sweden,Lund Univ, Sweden; Novartis, Sweden

Bucher, S. (författare): Department of Rheumatology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden,Orebro Univ, Sweden

Norheim, K. B. (författare): Department of Rheumatology, Stavanger University Hospital, Stavanger, Norway, and the Institute of Clinical Science, University of Bergen, Bergen, Norway,Stavanger Univ Hosp, Norway; Univ Bergen, Norway

Johnsen, S. J. A. (författare)

Omdal, R. (författare): Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Bergen, Norway, and the Department of Rheumatology, Stavanger University Hospital, Stavanger, Norway,Univ Bergen, Norway; Stavanger Univ Hosp, Norway

Kvarnstrom, M. (författare): Karolinska Institutet

Wahren-Herlenius, M. (författare): Karolinska Institutet

Truedsson, L. (författare): Department of Microbiology, Immunology, and Glycobiology, Lund University Hospital, Lund, Sweden,Lund Univ Hosp, Sweden

Nilsson, B. (författare): Department of Immunology, Genetics, and Pathology, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden

Kozyrev, S. V. (författare): Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden

Bianchi, M. (författare): Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden,Uppsala Univ, Sweden

Lindblad-Toh, K. (författare): Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden, and Broad Institute of MIT and Harvard, MA, Cambridge, United States,Uppsala Univ, Sweden; Broad Inst MIT & Harvard, MA 02142 USA,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden, and Broad Institute of MIT and Harvard Cambridge Massachusetts

Yu, C. Y. (författare): Center for Microbial Pathogenesis, The Research Institute at Nationwide Children's Hospital, OH, Columbus, United States,Nationwide Childrens Hosp, OH USA

Nordmark, Gunnel (författare): Uppsala universitet,Reumatologi

Sandling, Johanna K. (författare): Uppsala universitet,Reumatologi

Svenungsson, E. (författare): Karolinska Institutet

Leonard, Dag, 1975- (författare): Uppsala universitet,Reumatologi

Rönnblom, Lars (författare): Uppsala universitet,Reumatologi

Dissect Consortium, Dissect Consortium (författare)

ImmunoArray, Consortium (författare)

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(creator_code:org_t)

2022-10-07
2022
Engelska.
Ingår i: Arthritis & Rheumatology. - : Wiley. - 2326-5191 .- 2326-5205. ; 74:11, s. 1842-1850

Relaterad länk:: https://doi.org/10.1...; visa fler...; https://umu.diva-por... (primary) (Raw object); https://liu.diva-por... (primary) (Raw object); https://uu.diva-port... (primary) (Raw object); https://gup.ub.gu.se...; https://doi.org/10.1...; https://urn.kb.se/re...; https://urn.kb.se/re...; https://urn.kb.se/re...; http://kipublication...; visa färre...

Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

Stäng

Objective 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 Sjogren'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. Methods The presence of the common 28-bp C2 deletion rs9332736 and C4 copy number variation was examined in Scandinavian patients who had received a diagnosis of SLE (n = 958) or primary SS (n = 911) and in 2,262 healthy controls through the use of DNA sequencing. The concentration of complement proteins in plasma and classical complement function were analyzed in a subgroup of SLE patients. Results Heterozygous C2 deficiency-when present in combination with a low C4A copy number-substantially increased the risk of SLE (odds ratio [OR] 10.2 [95% confidence interval (95% CI) 3.5-37.0]) and the risk of primary SS (OR 13.0 [95% CI 4.5-48.4]) when compared to individuals with 2 C4A copies and normal C2. For patients heterozygous for rs9332736 with 1 C4A copy, the median age at diagnosis was 7 years earlier in patients with SLE and 12 years earlier in patients with primary SS when compared to patients with normal C2. Reduced C2 levels in plasma (P = 2 x 10(-9)) and impaired function of the classical complement pathway (P = 0.03) were detected in SLE patients with heterozygous C2 deficiency. Finally, in a primary SS patient homozygous for C2 deficiency, we observed low levels of anti-Scl-70, which suggests a risk of developing systemic sclerosis or potential overlap between primary SS and other systemic autoimmune diseases. Conclusion We demonstrate that a genetic pattern involving partial deficiencies of C2 and C4A in the classical complement pathway is a strong risk factor for SLE and for primary SS. Our results emphasize the central role of the complement system in the pathogenesis of both SLE and primary SS.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

c2 deficiency
classification criteria
c4
polymorphisms
prevalence
component
disease
onset
sle
Rheumatology

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Av lärosätet: Göteborgs universitet; Umeå universitet; Linköpings universitet; Uppsala universitet; Karolinska Institutet

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