Analysis of TNF Polymorphisms in Turkish Systemic Sclerosis Patients with Interstitial Lung Involvement

Ateş, Ömer; Müsellim, Benan; Öngen, Gül; Topal-Sarikaya, Aysegul

doi:10.1007/s10528-008-9182-6

Cited by 5 publications

(4 citation statements)

References 27 publications

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“…However, we did not observe an analogous tendency between rs1800629 and rs1799964 polymorphisms and SSc. These results are different to those reported in other populations [ 3 , 15 , 36 ]. Lomeli-Nieto JA et al highlighted an association of the AG rs1800629 genotype with disease susceptibility according to not only a codominant genetic model, but also with higher anti-fibrillarin antibodies, and higher skin thickening [ 3 ].…”

Section: Discussioncontrasting

confidence: 99%

“…Additionally, Oh SS et al underlined the association of rs1799964 SNPs with smoking-related cancers among never smokers, whereas Li X et al highlighted the correlation with cervical cancers [ 48 , 49 ]. We did not find an association between rs361525 polymorphisms and disease risk, which is in line with data presented by Lomeli-Nieto JA et al and Ates O et al [ 3 , 36 ]. Interestingly, Lomelli-Nieto JA et al observed that SSc patients carrying the AG rs361525 genotype have been associated with higher serum TNF-α (sTNF-α) levels and had ~4.5-fold higher TNFA mRNA expression than GG genotype carriers [ 3 ].…”

Section: Discussionsupporting

confidence: 93%

“…In view of the evidence, TNF-α might be a major contributor to SSc progression due the overall vascular damage [ 3 , 12 ]. Some studies on TNFA polymorphisms have reported an association between the rs361525 and rs1800629 polymorphisms with SSc risk in different populations, nevertheless, its role in the Polish population was previously unknown [ 3 , 12 , 36 ]. Moreover, there are some data describing the association between some SNPs (e.g., TNFα promoter T rs1799724 genotype variant is higher than C rs1799724 genotype variant in the levels of transcriptional activity of the gene, mRNA, and protein of the TNFα) and mRNA or protein production [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

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Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis

Kosałka-Węgiel

Lichołai

Dziedzina

et al. 2022

Life

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Tumor necrosis factor (TNF)-α is a proinflammatory cytokine that plays an important role in the pathogenesis of autoimmune diseases. The aim of the study was to establish an association between TNF-α promoter variability and systemic sclerosis (SSc). The study included 43 SSc patients and 74 controls. Four single nucleotide polymorphisms (rs361525, rs1800629, rs1799724, and rs1799964) located at the promoter of the TNFA gene were genotyped using commercially available TaqMan allelic discrimination assays with real-time PCR. The rs1799724 allele was associated with an increased SSc susceptibility (p = 0.028). In turn, none of the polymorphisms studied were related to the clinical and laboratory parameters of SSc patients, except for a higher prevalence of anti-Ro52 antibodies in the AG rs1800629 genotype in comparison to GG carriers (p = 0.04). Three of four cancer patients had both CT rs1799964 and AG rs361525 genotypes; thus, both of them were related to the increased risk of cancer, as compared to the TT (p = 0.03) and GG carriers (p = 0.0003), respectively. The TNFA C rs1799724 variant is associated with an increased risk of SSc, while the CT rs1799964 and AG rs361525 genotypes might enhance cancer susceptibility in SSc patients, although large observational and experimental studies are needed to verify the above hypothesis.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 99%

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Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis

Kosałka-Węgiel

Lichołai

Dziedzina

et al. 2022

Life

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“…19 Furthermore, a relationship was found between some polymorphic regions in cytokines (TNF and interleukin10) and SSc in our previous studies. 26,27 Same patience and control groups were used in those studies as in this study.…”

Section: 17mentioning

confidence: 99%

Analysis of transforming growth factor beta 1 (TGF‐β1) gene polymorphisms in Turkish patients with scleroderma

Büyük

Ateş

Dalyan

et al. 2010

Cell Biochemistry & Function

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Systemic sclerosis (SSc) is an autoimmune disease characterized by inflammation and fibrosis of the skin and visceral organs. Fibrosis associated with SSc is characterized by an increased synthesis of a wide range of extracellular matrix (ECM). TGF-beta is a pluripotent cytokine in a wide range of cell types. In particular it has been found to be a potent inducer of ECM protein synthesis and fibroblast migration. The TGF-beta1 gene is highly polymorphic and two signal sequence polymorphisms at codon 10 and codon 25 are linked to disease outcomes. In this study, we analysed two polymorphic sites of the TGF-beta1 gene, codon 10 and codon 25, in 43 Turkish SSc female patients with interstitial lung involvement and in 75 healty individuals by ARMS-PCR. In our study no significant difference was found in codon 10, codon 25 genotype frequencies between patient with SSc and the control group (p = 0.676, 0.375, respectively). Our findings suggest that codon 10 and 25 polymorphism cannot be related with SSc for Turkish population.

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The effect of TGF-β1 polymorphism on systemic sclerosis: a systematic review and pooled analysis of available literature

et al. 2013

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Transforming growth factor-β1 (TGF-β1) plays an important role in the pathogenesis of systemic sclerosis (SSc). To investigate whether TGF-β1 gene promoter polymorphisms were associated with the susceptibility of SSc, we performed a meta-analysis based on all available studies through PubMed, Elsevier Science Direct, Embase, and Chinese Biomedical, China National Knowledge Infrastructure and Google Scholar with the last report up to March 15, 2013. Crude odds ratios with 95% confidence intervals were used to estimate the strength of the association. A fixed or random effects model was adopted according to heterogeneity test. Heterogeneity among studies was evaluated using I (2) . Meta-regression was used to explore potential sources of between-study heterogeneity. Publication bias was estimated using Begg's and Egger's test. Totally, seven papers with 663 SSc patients and 908 healthy controls were subjected to the final analysis. These studies encompass seven for TGF-β1 codon 10, three for codon 25 and three for -509C/T. We failed to detect any association of these promoter polymorphism with SSc susceptibility. For TGF-β1 codon 10 polymorphism, subgroup analyses by race, genotype testing method and classification of SSc were further performed. Similarly, no association was observed. Significant heterogeneity was detected among the studies in all genetic models of TGF-β1 codon 10 polymorphism. Publication bias was absent. Taken together, our meta-analysis did not provided an evidence of confirming association between TGF-β1 (codon 10, codon 25, -509C/T) gene polymorphism and SSc. Nevertheless, due to smaller sample sizes, larger sample studies including different ethnic groups should be considered in future to confirm our results.

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Analysis of TNF Polymorphisms in Turkish Systemic Sclerosis Patients with Interstitial Lung Involvement

Cited by 5 publications

References 27 publications

Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis

Genetic Association between TNFA Polymorphisms (rs1799964 and rs361525) and Susceptibility to Cancer in Systemic Sclerosis

Analysis of transforming growth factor beta 1 (TGF‐β1) gene polymorphisms in Turkish patients with scleroderma

The effect of TGF-β1 polymorphism on systemic sclerosis: a systematic review and pooled analysis of available literature

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