Association of Tumor Necrosis Factor-Alpha -308 G&gt;A Polymorphism With Rheumatoid Arthritis in Two North Indian Cohorts

Raina, Priyanka; Matharoo, Kawaljit; Kumar, Ajay; Sarangal, Priyanka; Sharma, Reema; Bhanwer, A.J.S.

doi:10.5606/archrheumatol.2014.4499

Cited by 8 publications

(4 citation statements)

References 49 publications

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“…According to our investigation in a Pakistani populace the rate of occurrence of RA is higher in females than in males. In our study, we found that a higher percentage of females (86.86%) were affected than males (13.14%), which is consistent with findings from Taiwan [ 24 ] and a North Indian cohort [ 25 ], implying that gender may have a substantial consequence for RA susceptibility. Studies show that promoter regions of RA candidate genes are extremely polymorphic, which has been accompanied with disease susceptibility as well as severity in different populations [ 26 ].…”

Section: Discussionsupporting

confidence: 91%

Lack of association of –863C/A (rs1800630) polymorphism of tumor necrosis factor-α gene with rheumatoid arthritis

Sadaf

John

Bhatti

et al. 2019

aoms

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IntroductionMultifunctional pro-inflammatory cytokine tumor necrosis factor-α (TNF-α) has been implicated in a variety of inflammatory diseases including rheumatoid arthritis (RA). TNF-α polymorphisms are mostly located in its promoter region and play a significant role in disease susceptibility and severity. We therefore sought to investigate TNFA –863C/A (rs1800630) polymorphism association with RA activity in our Pakistani study group.Material and methodsA total of 268 human subjects were enrolled. Among them, 134 were RA patients and 134 were controls. In this study the physical parameters of RA patients were collected, and the disease activity was measured by DAS28. The genotypes were determined following the allele-specific PCR along with the pre-requisite internal amplification controls. Subsequently, data were analyzed statistically for any significant association including χ2/Fisher’s exact test using GraphPad prism 6 software.ResultsWe found that the TNF-α –863 C/A (rs1800630) variant was not differentially segregated between cases and controls in either genotype frequency, with χ2 of 2.771 and a p-value of 0.2502, or allele frequency, with χ2 of 2.741 and a p-value of 0.0978, with an odds ratio (95% CI) of 0.7490 (0.5317–1.055).ConclusionsThe lack of positive association of TNF-α –863(rs1800630) polymorphism in our study group implies that TNF-α –863 polymorphism is not a susceptible marker to RA and cannot serve as a genetic factor for screening RA patients in Pakistan. There might be other factors that may influence disease susceptibility. However, further investigations on additional larger and multi-regional population samples are required to determine the consequences of genetic variations for disease prognosis.

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Section: Discussionsupporting

confidence: 91%

Lack of association of –863C/A (rs1800630) polymorphism of tumor necrosis factor-α gene with rheumatoid arthritis

Sadaf

John

Bhatti

et al. 2019

aoms

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“…The conflicting results in different studies in different populations could be explained by genetic heterogeneity [ 38 ]. Additionally, TNF-α (308G/A) lies in the regulatory region of TNF-α and is believed to play an important role in the transcription since it may be possible that TNF-α (-308A) allele could manipulate the regulation of gene transcription, causing increased mRNA expression, finally regulating protein production [ 39 , 45 , 46 ]. The genetic transition of Guanine to Arginine in TNF-α-308G/A has been associated with several inflammatory disorders; however, the associations are quite controversial and depend on ethnicity.…”

Section: Discussionmentioning

confidence: 99%

Genetic Variations in IL-1β, TNF-α, and TGF-β Associated with the Severity of Chronic Cervical Spondylitis in Patients

Yadav

Goyal

Mamgain

et al. 2023

Cells

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Chronic cervical spondylitis (CCS), a degenerative disorder of the spine, is known for causing disability among old and young people. Single-nucleotide polymorphisms (SNPs) in various cytokine genes have demonstrated an impactful association with several inflammatory disorders. In the present study, we have investigated the SNPs and allelic distribution of the three most prevalent cytokines genes, IL-1β (-511C/T), TNF-α (-308G/A), and TGF-β (-509C/T), along with serum levels of these cytokines in 252 subjects. SNPs were analyzed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and digested fragments were separated and visualized using agarose gel electrophoresis and Native Polyacrylamide gel electrophoresis (PAGE). The serum cytokine levels were analyzed with a flow cytometer using a customized multiplex bead-based assay. It was observed that these SNPs did not reflect the susceptibility to CCS but were associated with susceptibility to CCS. We found a significant association between the C/C and G/G genotypes and the C and G alleles of IL-1β and TNF-α, respectively, suggesting a lower risk of CCS. The frequency distribution of risk alleles (-511T) and (-308A) were simultaneously higher in CCS compared to the control, reflecting the susceptibility to CCS. TGF-β showed a significant association with disease susceptibility, along with a significant correlation between age and the chronicity of CCS. The serum cytokine levels were significantly different in CCS and controls.

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“…Rheumatoid arthritis (RA) is a chronic autoimmune disease that affects 1% of the population worldwide [1]. It is a systemic disease that involves the joints, organs, and other areas of the body such as the skin, eyes, heart, lungs, kidney, and spleen [2,3].…”

Section: Introductionmentioning

confidence: 99%

Tumour necrosis factor gene polymorphisms in Egyptian patients with rheumatoid arthritis and their relation to disease activity and severity

Zaghlol¹,

Abdelshafy²,

Mohamed³

et al. 2019

cejoi

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Aim of the study:The present case control study was conducted to assess the association of LTA 252 A>G, TNF-α 308 G>A, and TNF-α 1031 T>C gene polymorphisms with rheumatoid arthritis (RA), and their involvement in disease activity and severity.Material and methods: A total of 70 Egyptians, including 35 RA patients and 35 healthy control individuals, were included in the study. The RA patients comprised 34 females and one male. Cases with RA were diagnosed by a rheumatologist and fulfilled the 2010 ACR/EULAR criteria. Modified disease activity score (DAS28) was used to assess disease activity. Van Der Heijde-modified Sharp score (vdHSS) was used to assess radiological changes for assessment of disease severity. PCR-RFLP was used to detect the association of LTA 252 A>G, TNF-α 308 G>A, and TNF-α 1031 T>C gene polymorphisms with RA.Results: TNF-α 308 G allele and TNF-α 308 GG genotype were significantly higher in RA patients compared to healthy control subjects (p = 0.04 and p = 0.001, respectively). TNF-α 308 G allele and GG genotype were significantly higher in the RA non-remission group compared to the remission group (p = 0.008, p < 0.001). Patients with the TNF-α 308 AG genotype had higher mean of Sharp score compared to the patients with the GG and AA genotypes (p = 0.007). There was no significant association between LTA 252 A>G and TNF-α 1031 T>C gene polymorphisms and RA.Conclusions: Our results suggest that TNF-α 308 G/A gene polymorphism is genetically associated with RA and involved in disease activity and severity in Egyptian patients.

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Association of Tumor Necrosis Factor-Alpha -308 G>A Polymorphism With Rheumatoid Arthritis in Two North Indian Cohorts

Cited by 8 publications

References 49 publications

Lack of association of –863C/A (rs1800630) polymorphism of tumor necrosis factor-α gene with rheumatoid arthritis

Lack of association of –863C/A (rs1800630) polymorphism of tumor necrosis factor-α gene with rheumatoid arthritis

Genetic Variations in IL-1β, TNF-α, and TGF-β Associated with the Severity of Chronic Cervical Spondylitis in Patients

Tumour necrosis factor gene polymorphisms in Egyptian patients with rheumatoid arthritis and their relation to disease activity and severity

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