&lt;p&gt;Sj&amp;ouml;gren&amp;#39;s syndrome and systemic lupus erythematosus: links and risks&lt;/p&gt;

Pasoto, Sandra Gofinet; Martins, Victor Adriano de Oliveira; Bonfá, Eloísa

doi:10.2147/oarrr.s167783

Cited by 69 publications

(37 citation statements)

References 84 publications

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“…The cross-comparative analysis of DNA methylation performed in the current study facilitates identification of shared and disease-specific molecular signatures of SLE and pSS. We observed a widespread shared epigenetic architecture in SLE and pSS compared to healthy controls, underlining the concept of similar pathogenic mechanisms contributing to SLE and pSS (8, 38, 39), although we cannot exclude that the observed differences are reactive. The effect sizes of DNA methylation changes differed between the two diseases, while the direction of effect was usually the same; typically, with intermediate methylation levels in pSS compared to SLE and controls.…”

Section: Discussionmentioning

confidence: 72%

“…In conclusion, our current study comparing DNA methylation across the genome between patients with SLE and pSS reveals more similarities than differences. Given the genetic background with similar HLA-associations, pathogenic mechanisms of type I IFN and B cell activation as well as overlapping clinical features, this may not be surprising (8, 10, 39, 55). However, disease-specific DNA methylation changes occur, indicating specific pathways possibly contributing to the different phenotypes of SLE and pSS.…”

Section: Discussionmentioning

confidence: 99%

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Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjögren's Syndrome

et al. 2019

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Objectives: To perform a cross-comparative analysis of DNA methylation in patients with systemic lupus erythematosus (SLE), patients with primary Sjögren's syndrome (pSS), and healthy controls addressing the question of epigenetic sharing and aiming to detect disease-specific alterations. Methods: DNA extracted from peripheral blood from 347 cases with SLE, 100 cases with pSS, and 400 healthy controls were analyzed on the Human Methylation 450k array, targeting 485,000 CpG sites across the genome. A linear regression model including age, sex, and blood cell type distribution as covariates was fitted, and association p -values were Bonferroni corrected. A random forest machine learning classifier was designed for prediction of disease status based on DNA methylation data. Results: We established a combined set of 4,945 shared differentially methylated CpG sites (DMCs) in SLE and pSS compared to controls. In pSS, hypomethylation at type I interferon induced genes was mainly driven by patients who were positive for Ro/SSA and/or La/SSB autoantibodies. Analysis of differential methylation between SLE and pSS identified 2,244 DMCs with a majority of sites showing decreased methylation in SLE compared to pSS. The random forest classifier demonstrated good performance in discerning between disease status with an area under the curve (AUC) between 0.83 and 0.96. Conclusions: The majority of differential DNA methylation is shared between SLE and pSS, however, important quantitative differences exist. Our data highlight neutrophil dysregulation as a shared mechanism, emphasizing the role of neutrophils in the pathogenesis of systemic autoimmune diseases. The current study provides evidence for genes and molecular pathways driving common and disease-specific pathogenic mechanisms.

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Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjögren's Syndrome

et al. 2019

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“…pSS is recorded under "Musculoskeletal disease other (L99)," as are for example Systemic Lupus Erythematosus and Systemic Sclerosis, which are autoimmune disorders that can occur in association with Sjögren's syndrome. 16 An important consequence for our purposes is the fact that there is no simple way to identify pSS patients from primary care EHRs and no gold standard available to validate any patient selection made based on alternative rules or criteria.…”

Section: Primary Care Datamentioning

confidence: 99%

“…In order to distinguish specifically primary Sjögren's syndrome, Systemic Lupus Erythematosus, Systemic Sclerosis, and Rheumatoid Arthritis should additionally be excluded. 16…”

Section: Secondary Sjögren's Syndromementioning

confidence: 99%

Fitness for purpose of routinely recorded health data to identify patients with complex diseases: The case of Sjögren's syndrome

Wiegersma

Flinterman

Seghieri

et al. 2020

Learning Health Systems

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Background: This study is part of the EU-funded project HarmonicSS, aimed at improving the treatment and diagnosis of primary Sjögren's syndrome (pSS). pSS is an underdiagnosed, long-term autoimmune disease that affects particularly salivary and lachrymal glands. Objectives: We assessed the usability of routinely recorded primary care and hospital claims data for the identification and validation of patients with complex diseases such as pSS. Methods: pSS patients were identified in primary care by translating the formal inclusion and exclusion criteria for pSS into a patient selection algorithm using data from Nivel Primary Care Database (PCD), covering 10% of the Dutch population between 2006 and 2017. As part of a validation exercise, the pSS patients found by the algorithm were compared to Diagnosis Related Groups (DRG) recorded in the national hospital insurance claims database (DIS) between 2013 and 2017. Results: International Classification of Primary Care (ICPC) coded general practitioner (GP) contacts combined with the mention of "Sjögren" in the disease episode titles, were found to best translate the formal classification criteria to a selection algorithm for pSS. A total of 1462 possible pSS patients were identified in primary care (mean prevalence 0.7‰, against 0.61‰ reported globally). The DIS contained 208 545 patients with a Sjögren related DRG or ICD10 code (prevalence 2017: 2.73‰). A total of 2 577 577 patients from Nivel PCD were linked to the DIS database. A total of 716 of the linked pSS patients (55.3%) were confirmed based on the DIS.

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“…Several autoantibodies such as antinuclear antibodies (ANA), anti-Sjögren's-syndrome-related antigen A and B (anti-SSA/SSB), antibodies directed against double-stranded DNA (anti-dsDNA), anti-Smith (anti-Sm), small nuclear ribonucleoprotein (snRNP), and antiphospholipid antibody (aPL) are associated with SLE [ 11 ]. Furthermore, Sjogren's syndrome (SS) may be associated with SLE and RA [ 12 ]. Lacrimal and salivary glands are involved in SS, resulting in dry eye and mouth symptoms as primary clinical manifestations [ 13 , 14 ].…”

Section: Introductionmentioning

confidence: 99%

Coexistence of Rheumatoid Arthritis, Systemic Lupus Erythematosus, Sjogren Syndrome, Antiphospholipid Syndrome, and Ankylosing Spondylitis

Khasru

Siddiq²,

Sayeeduzzaman

et al. 2021

Case Reports in Rheumatology

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A 37-year-old Bangladeshi woman presented with low back and several joints pain and swelling for months together; there was significant morning stiffness for more than two hours. Repeated abortions, dry eye, hair fall, photosensitivity, and oral ulcer were the additional complaints. Clinical examination unveiled asymmetrical peripheral and both sacroiliac joint tenderness, positive modified Schober’s test, and limited chest expansion. Schirmer’s test was positive. The history of rheumatoid arthritis (RA) and ankylosing spondylitis (AS) among 1st-degree relatives was also significant. Biochemical analysis revealed pancytopenia, raised erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), and mild microscopic proteinuria. The patient was seropositive for rheumatoid factor (RF), antibodies against cyclic citrullinated peptides (anti-CCP), antinuclear antibody (ANA), anti-Sm antibody, anti-Sjögren’s-syndrome-related antigen A and B (anti-SSA/SSB), antiphospholipid (aPL-IgG/IgM), and HLA B27; however, serum complement (C3 and C4) levels were normal. Basal cortisol level measured elevated. Besides, X-ray and MRI of lumbosacral spines demonstrated sacroiliitis. There was radiological cardiomegaly, echocardiography unveiled atrial regurgitation, and ascending aorta aneurysm. Based on the abovementioned information, RA, AS, and systemic lupus erythematosus (SLE) have been diagnosed. Moreover, the patient developed Sjogren’s syndrome (SS), antiphospholipid lipid syndrome (APS), Cushing syndrome, ascending aorta aneurysm, and atrial regurgitation. Her disease activity score for RA (DAS28), DAS for AS (ASDAS), SLE disease activity index (SLEDAI), and Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) scores were 3.46, 2.36, 23, and 5, respectively. The patient received hydroxychloroquine (200 mg daily), pulsed cyclophosphamide, prednisolone (20 mg in the morning), and naproxen 500 mg (twice daily). To our best knowledge, this is the first report documenting RA, AS, and SLE with secondary SS and APS.

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<p>Sjögren's syndrome and systemic lupus erythematosus: links and risks</p>

Abstract: Systemic lupus erythematosus (SLE)

Cited by 69 publications

References 84 publications

Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjögren's Syndrome

Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjögren's Syndrome

Fitness for purpose of routinely recorded health data to identify patients with complex diseases: The case of Sjögren's syndrome

Coexistence of Rheumatoid Arthritis, Systemic Lupus Erythematosus, Sjogren Syndrome, Antiphospholipid Syndrome, and Ankylosing Spondylitis

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