Increased Frequency of the Uncommon Allele of a Tumour Necrosis Factor Alpha Gene Polymorphism in Rheumatoid Arthritis and Systemic Lupus Erythematosus

Danis, V A; Millington, Michelle; Hyland, Valentine J.; Lawford, Ron; Huang, Qirong; Grennan, D M

doi:10.1155/1994/756247

Cited by 118 publications

(65 citation statements)

References 6 publications

(8 reference statements)

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“…Analysis of the transcrip- Table 8. Odds ratio of DRB1*03 stratified on TGF␤1 codon 10 for susceptibility to anti-SSB antibody in Sjögren's syndrome patients* TGF␤1 C positive (C/C ϩ C/T) TGF␤1 C negative (T/T) tional capacity and the functional relevance of this allele, which is usually associated with higher serum TNF values (27,28), is a subject of controversy, since a lack of association between TNF-308 polymorphisms and TNF␣ production has also been reported (29,30). A highly significant increase in the TNF2 allele frequency was observed only among patients with anti-SSB antibody, suggesting the role of anti-SSB in the association between TNF2 and primary SS.…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

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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“…Similarly, functional studies of the allele À308A have been inconsistent, with both higher 30 and no change 31,32 in TNF-a production in cells stimulated with lipopolysaccharide. Studies using gene reporter assays have also shown effects ranging from increased 33 to no change 26,34 in gene transcription.…”

Section: Discussionmentioning

confidence: 99%

An analysis of tumor necrosis factor α gene polymorphisms and haplotypes with natural clearance of hepatitis C virus infection

et al. 2004

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The cytokine tumor necrosis factor alpha (TNF-a) is important in generating an immune response against a hepatitis C virus (HCV) infection. The functions of TNF-a may be altered by single-nucleotide polymorphisms (SNPs) in its gene, TNF. We hypothesized that SNPs in TNF may be important in determining the outcome of an HCV infection. To test this hypothesis, we typed nine TNF SNPs in a cohort of individuals with well-defined HCV outcomes. Three of these SNPs were typed in a second cohort. Data were analyzed using logistic regression stratifying by ethnicity, since rates of HCV clearance differ in black subjects versus white subjects. The SNP À863A was associated with viral clearance in black subjects (odds ratios (OR) 0.52, 95% confidence interval (CI) 0.29-0.93). Furthermore, the common wild-type haplotype À863C/À308G was associated with viral persistence in black subjects (OR 1.91, 95% CI 1.24-2.95). These findings were independent of linkage with human leukocyte antigen (HLA) alleles. Further study of this polymorphism and haplotype is needed to understand these associations and the role of TNF-a in determining outcomes of HCV infection.

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“…27 Another large Japanese study (n ¼ 387) looked at several TNF SNPs including À308, but only found that the T allele of the -857 SNP was increased in RA patients, and this link also proved to be dependent on HLA-DRB1*0405. 28 Perhaps, the most surprising finding is that while an Australian study 29 had reported an increase in the À308A allele in RA patients, two recent studies from Taiwan 30 and Sweden 31 reported an increased incidence of the À308G allele in RA patients, when compared to controls. In addition to studies of the incidence of RA, some researchers have examined the possible role of the allele variants in disease severity.…”

Section: Autoimmune Disease Associationsmentioning

confidence: 99%

Is there a future for TNF promoter polymorphisms?

2004

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The in vitro study of TNF promoter polymorphism (SNP) function was stimulated by the numerous case-control (association) studies of the polymorphisms in relation to human disease and the appearance of several studies claiming to show a functional role for these SNPs provided a further impetus to researchers interested in the role of TNF in their disease of interest. In this review we consider case-control studies, concentrating on the autoimmune and inflammatory diseases rheumatoid arthritis, multiple sclerosis, ankylosing spondylitis, and asthma, and on infectious diseases including malaria, hepatitis B and C infection, leprosy and sepsis/septic shock. We also review the available evidence on the functional role of the various TNF promoter polymorphisms. In general, case-control studies have produced mixed results, with little consensus in most cases on whether any TNF polymorphisms are actually associated with disease, although results have been more consistent in the case of infectious diseases, particularly malaria. Functional studies have also produced mixed results but recent work suggests that the much studied À308G/A polymorphism is not functional, while the function of other TNF polymorphisms remains controversial. Studies of the TNF region are increasingly using extended haplotypes that can better capture the variation of the MHC region.

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Increased Frequency of the Uncommon Allele of a Tumour Necrosis Factor Alpha Gene Polymorphism in Rheumatoid Arthritis and Systemic Lupus Erythematosus

Cited by 118 publications

References 6 publications

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

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

An analysis of tumor necrosis factor α gene polymorphisms and haplotypes with natural clearance of hepatitis C virus infection

Is there a future for TNF promoter polymorphisms?

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