Association of TNF‐α polymorphisms with adult dermatomyositis and systemic lupus erythematosus in Bulgarian patients

Dourmishev, Lyubomir; Kamenarska, Zornitsa; Hristova, Maria; Dodova, R.; Kaneva, Radka; Mitev, Vanio

doi:10.1111/j.1365-4632.2012.05522.x

Cited by 12 publications

(7 citation statements)

References 45 publications

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“…There are several polymorphisms in the promoter region of the TNF gene (−308A/G, −238G/A, +489G/A, −1031T/C, −863C/A, −857C/T) [43]. Some studies had investigated the relationship between TNF-α-238A/G, +489 A/G, −1031T/C, −863C/A, −857C/T polymorphisms and the susceptibility to DM [11], [14]–[15], [17], we also summarized the characteristics of studies and populations on the association between other TNF polymorphisms and DM risk (The details of the characteristics were provided in Table S1, S2A, S2B, S2C, S2D in File S1). And we did meta-analysis on the association between the TNF-α-238A/G, +489 A/G, −1031T/C, −863C/A, −857C/T polymorphisms and the susceptibility to DM (The details of the results were provided in Table S3 in File S1).…”

Section: Discussionmentioning

confidence: 99%

Associations between TNF-α-308A/G Polymorphism and Susceptibility with Dermatomyositis: A Meta-Analysis

Chen

Wang

et al. 2014

PLoS ONE

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BackgroundSome surveys had inspected the effects of the tumor necrosis factor-α (TNF-α)-308A/G polymorphism on susceptibility to dermatomyositis (DM), and showed mixed results. To briefly review these consequences, a comprehensive meta-analysis was carried out to estimate the relationship between them much more accurately.MethodsRelevant documents dated to February 2014 were acquired from the PUBMED, MEDLINE, and EMBASE databases. The number of the genotypes and/or alleles for the TNF-α-308A/G in the DM and control subjects was extracted and statistical analysis was conducted using STATA 11.2 software. Summary odds ratios (ORs) with their 95% confidence intervals (95% CIs) were used to calculate the risk of DM with TNF-α-308A/G. Stratified analysis based on ethnicity and control population source was also performed.Results555 patients with DM and 1005 controls from eight published investigations were finally involved in this meta-analysis. Combined analysis revealed that the overall ORs for the TNF-α-308A allele were 2.041 (95% CIs 1.528–2.725, P<0.0001) in DM. Stratification by ethnicity indicated the TNF-α-308A allele polymorphism was found to be significantly associated with DM in Europeans (OR = 1.977, 95% CI 1.413–2.765, P<0.0001). The only study conducted on TNF-α-308A/G polymorphism in Asians could not be used in ethnicity-stratified meta-analysis. Meta-analysis of the AA+AG vs. GG (dominant model) and AA vs. GG (additive model) of this polymorphism revealed a significant association with DM in overall populations and Europeans.ConclusionsOur meta-analysis demonstrated that the TNF-α-308A/G polymorphism in the TNF gene might contribute to DM susceptibility, especially in European population. However, further studies with large sample sizes and among different ethnicity populations should be required to verify the association.

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Section: Discussionmentioning

confidence: 99%

Associations between TNF-α-308A/G Polymorphism and Susceptibility with Dermatomyositis: A Meta-Analysis

Chen

Wang

et al. 2014

PLoS ONE

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“…The aim of the present study was to analyze the TNF-α serum concentrations in patients with DM and SLE and search for correlations on terms of the TNF-α polymorphisms we have studied earlier. 4,5…”

Section: Original Article Medicinementioning

confidence: 99%

“…In previous studies, we have found that the TNF-α -1031C/-863C/-857C/-308G/+489G haplotypes are associated with both DM and SLE, especially in women. 4,5 Although there are plenty of studies, the data concerning the role of TNF-α polymorphisms in its secretion vary a lot. In an in vitro study, the TNF-α level and the transcriptional promoter activity produced by concanavalin Aactivated peripheral blood mononuclear cells were higher for the -857T or -1031C alleles than for the -857C or -1031T alleles, respectively.…”

Section: Introductionmentioning

confidence: 99%

Genetically Determined TNF-α Secretion Influences the Development of Dermatomyositis and Systemic Lupus Erythematosus

Dourmishev¹,

Hristova²,

Kamenarska³

et al. 2018

Folia Medica

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“…The cytokine secretion was found to be under genetic control [2]. In our previous study, we have found association between TNF- α polymorphisms and the etiology of DM and SLE in Bulgarian patients [3]. …”

Section: Introductionmentioning

confidence: 99%

Role of the Promoter Polymorphism IL-6 −174G/C in Dermatomyositis and Systemic Lupus Erythematosus

Hristova

Dourmishev

Kamenarska

et al. 2013

BioMed Research International

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The promoter polymorphism −174G/C within the interleukin-6 gene (IL-6) has been reported to have a functional importance through the modulation of IL-6 gene expression in vitro and in vivo. IL-6 is thought to play an important role in autoimmune diseases and the effect of its receptor inhibitor—tocilizumab—has been recently studied. The aim of this case-control study was to investigate the association between the interleukin-6 −174G/C single nucleotide polymorphism and the susceptibility to dermatomyositis (DM) and systemic lupus erythematosus (SLE) in Bulgarian patients. Altogether, 87 patients—52 with SLE and 35 with DM—as well as 80 unrelated healthy controls were included in this study. All of them were analyzed by restriction fragment length polymorphism analysis (RFLP). The GG genotype and the G allele appeared to be associated with SLE, especially in women. None of the genotypes showed an association with DM. However, the G allele appeared to be associated with muscle weakness and it is a risk factor for elevated muscle enzymes. Our results indicate that IL-6 −174G/C polymorphism might be associated with the susceptibility to SLE especially in women. Although it is not associated with DM, it seems that IL-6 −174G/C polymorphism could modulate some clinical features in the autoimmune myopathies.

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Association of TNF‐α polymorphisms with adult dermatomyositis and systemic lupus erythematosus in Bulgarian patients

Abstract: The TNF-α polymorphisms are associated with increased relative risk mainly for SLE, particularly in women, while their role for DM is less evident and needs further analysis in an enlarged sample cohort.

Cited by 12 publications

References 45 publications

Associations between TNF-α-308A/G Polymorphism and Susceptibility with Dermatomyositis: A Meta-Analysis

Associations between TNF-α-308A/G Polymorphism and Susceptibility with Dermatomyositis: A Meta-Analysis

Genetically Determined TNF-α Secretion Influences the Development of Dermatomyositis and Systemic Lupus Erythematosus

Role of the Promoter Polymorphism IL-6 −174G/C in Dermatomyositis and Systemic Lupus Erythematosus

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