The genetics of systemic sclerosis

Johnson, Randall W.; Tew, Monty B.; Arnett, Frank C.

doi:10.1007/s11926-002-0004-2

Cited by 63 publications

(42 citation statements)

References 78 publications

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“…A similar situation occurs in systemic sclerosis, where known genetic makers and HLA were reported to contribute poorly to the disease, but significantly to the generation of autoantibodies specific for the disease (40,41). Likewise, our results suggest that most of the known genetic predisposition to primary SS might concern the pattern of autoantibody diversification.…”

Section: Discussionsupporting

confidence: 80%

Association of transforming growth factor β1 and tumor necrosis factor α polymorphisms with anti‐SSB/La antibody secretion in patients with primary Sjögren's syndrome

Gottenberg¹,

Busson²,

Loiseau³

et al. 2004

Arthritis & Rheumatism

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Objective. To determine whether cytokine gene polymorphisms of interferon-␥ (IFN␥), interleukin-6 (IL-6), IL-10, tumor necrosis factor ␣ (TNF␣), and transforming growth factor ␤1 (TGF␤1) predispose subjects to the development of primary Sjögren's syndrome (SS).Methods. Single-base-exchange cytokine gene polymorphisms were analyzed in 129 French patients with primary SS who fulfilled the American-European Consensus Group criteria, as well as in 96 unrelated healthy subjects.Results. The frequency of the TNF-308A (TNF2) allele was significantly higher in the SS patients (26% versus 11%). This TNF2 association was restricted to patients with anti-SSB (37% versus 11% in controls). Stratification did not reveal an independent effect of TNF2 and HLA-DRB1*03 on disease or on anti-SSB antibody secretion. The frequency of allele C at codon 10 of TGF␤1 was strongly increased in the subgroup of patients with anti-SSB; this allele acted synergistically with DRB1*03 to predispose patients to the secretion of anti-SSB. The IL-10 GCC haplotype carrier rate was significantly higher in SS patients than in controls (67% versus 48%), but the IL-10 allele and genotype frequencies were not significantly different. No association was found between IL-6 or IFN␥ polymorphisms and primary SS.Conclusion. TNF2 was associated with anti-SSB antibody secretion, although this association was not independent of the association with DRB1*03. Allele C at codon 10 of TGF␤1 was found to act synergistically with DRB1*03 in predisposing patients to the secretion of anti-SSB. These results therefore suggest that most of the known genetic predisposition to primary SS might concern the pattern of autoantibody diversification.

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Section: Discussionsupporting

confidence: 80%

Association of transforming growth factor β1 and tumor necrosis factor α polymorphisms with anti‐SSB/La antibody secretion in patients with primary Sjögren's syndrome

Gottenberg¹,

Busson²,

Loiseau³

et al. 2004

Arthritis & Rheumatism

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“…Several other genes, such as fibrillin 1 and fibronectin, also have been associated with SSc or certain complications thereof (2). Thus, the genetics of SSc, similar and perhaps related to other autoimmune disorders, such as systemic lupus erythematosus, represents a complex situation in which several genes are likely to contribute to disease susceptibility and/or clinical manifestations (30).…”

Section: Discussionmentioning

confidence: 99%

Association of novel polymorphisms with the expression of SPARC in normal fibroblasts and with susceptibility to scleroderma

Zhou

Tan

Reveille

et al. 2002

Arthritis & Rheumatism

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Objective. Fibroblasts from patients with systemic sclerosis (SSc) have an activated phenotype characterized by increased synthesis of extracellular matrix (ECM) components. SPARC (secreted protein, acidic and rich in cysteine) regulates the deposition or assembly of ECM components. The aim of this study was to investigate the role of SPARC in SSc susceptibility by functional and genetic association studies. Conclusion. This study is the first to show that polymorphisms of the SPARC gene are associated with susceptibility to, and clinical manifestations of, SSc and that they may also be functionally important in influencing SPARC expression in skin fibroblasts.

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“…Despite these observations a more direct evidence of retroviral involvement in the etiology or pathogenesis of SSc is needed. Caucasian patients who display more limited disease with less systemic manifestations (5,6).…”

Section: Are Infectious Agents Involved In Ssc Pathogenesis?mentioning

confidence: 99%