A TNFR2 3′ flanking region polymorphism in systemic lupus erythematosus

Sullivan, KE; Piliero, LM; Goldman, Daniel; Petri, M.

doi:10.1038/sj.gene.6363662

Cited by 6 publications

(4 citation statements)

References 27 publications

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“…The association of SLE with TNFR2-196R 11 or another SNP within the 3ЈUTR 12 was not observed in the Caucasian populations. It is therefore possible that this SNP might possess a significant effect in the Japanese, but not in the Caucasian populations.…”

mentioning

confidence: 77%

New single nucleotide polymorphisms in the coding region of human TNFR2: association with systemic lupus erythematosus

et al. 2000

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We recently reported the association of the allele coding for Arg at the position 196 (196R: nucleotide [nt] 587G) of tumor necrosis factor receptor 2 (TNFR2, TNF-R75) with systemic lupus erythematosus (SLE) in Japanese. In the present study, we completed the variation screening of the entire coding region of TNFR2. Three new single nucleotide polymorphisms within the coding sequence (cSNPs), as well as several variations within the promoter, introns and 3Ј-untranslated region (3ЈUTR), were identified. Among the new SNPs, nt168G, a synonymous substitution (K56K), was in tight linkage disequilibrium with nt587G. Two other cSNPs, nt543 (C→T) (P181P) and nt694 (G→A) (E232K), were not significantly associated with SLE. Thus, among the non-synonymous cSNPs, only nt587 (T→G) (M196R) was found to be significantly associated with SLE in Japanese. Genes and Immunity (2000) 1, 501-503.

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confidence: 77%

New single nucleotide polymorphisms in the coding region of human TNFR2: association with systemic lupus erythematosus

et al. 2000

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“…Reduced levels of TNF-α adapter proteins have been shown to be related to advanced lymphocyte apoptosis and enormous autoantibody secretion, resulting in immune-pathogenic injury in patients with SLE (106). Moreover, several studies did not demonstrate any association between polymorphisms in the TNFR2 gene and SLE (133)(134)(135). Sullivan et al (135) analyzed the frequency of genetic polymorphisms in the 3' untranslated region of the TNFR2 gene in patients with SLE and did not find an association, although the study examined only caucasian patients.…”

Section: Systemic Lupus Erythematosus and Tnf-αmentioning

confidence: 99%

“…Moreover, several studies did not demonstrate any association between polymorphisms in the TNFR2 gene and SLE (133)(134)(135). Sullivan et al (135) analyzed the frequency of genetic polymorphisms in the 3' untranslated region of the TNFR2 gene in patients with SLE and did not find an association, although the study examined only caucasian patients. Furthermore, chadha et al (134) did not find any association between TNFRSF14, TNFRSF8, TNFRSF1B locus and SLE in European-caucasian families.…”

Section: Systemic Lupus Erythematosus and Tnf-αmentioning

confidence: 99%

Tumor necrosis factor‑α in systemic lupus erythematosus: Structure, function and therapeutic implications (Review)

et al. 2022

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Tumor necrosis factor-α (TNF-α) is a pleiotropic pro-inflammatory cytokine that contributes to the pathophysiology of several autoimmune diseases, such as multiple sclerosis, inflammatory bowel disease, rheumatoid arthritis, psoriatic arthritis and systemic lupus erythematosus (SLE). The specific role of TNF-α in autoimmunity is not yet fully understood however, partially, in a complex disease such as SLE. Through the engagement of the TNF receptor 1 (TNFR1) and TNF receptor 2 (TNFR2), both the two variants, soluble and transmembrane TNF-α, can exert multiple biological effects according to different settings. They can either function as immune regulators, impacting B-, T-and dendritic cell activity, modulating the autoimmune response, or as pro-inflammatory mediators, regulating the induction and maintenance of inflammatory processes in SLE. The present study reviews the dual role of TNF-α, focusing on the different effects that TNF-α may have on the pathogenesis of SLE. In addition, the efficacy and safety of anti-TNF-α therapies in preclinical and clinical trials SLE are discussed.

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“…On the other hand, some investigations failed to find any connection between SLE and polymorphisms in the TNFR2 gene [16,[37][38][39].…”

Section: Genetic Involvement Of Tnf-α In Slementioning

confidence: 99%

Cytokines in Systemic Lupus Erythematosus—Focus on TNF-α and IL-17

Richter,

Macovei,

Mihai

et al. 2023

IJMS

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Systemic lupus erythematosus (SLE) is an autoimmune disorder known for its complex pathogenesis, in which cytokines play an essential role. It seems that the modulation of these cytokines may impact disease progression, being considered potential biomarkers. Thus, TNF (tumor necrosis factor)-α and IL (interleukin)-17 are molecules of great interest in SLE. TNF-α plays a dual role in SLE, with both immunosuppressive and proinflammatory functions. The role of IL-17 is clearly described in the pathogenesis of SLE, having a close association with IL-23 in stimulating the inflammatory response and consecutive tissue destruction. It appears that patients with elevated levels of these cytokines are associated with high disease activity expressed by the SLE disease activity index (SLEDAI) score, although some studies do not confirm this association. However, TNF-α and IL-17 are found in increased titers in lupus patients compared to the general population. Whether inhibition of these cytokines would lead to effective treatment is under discussion. In the case of anti-TNF-α therapies in SLE, the possibility of ATIL (anti-TNF-induced lupus) is a serious concern that limits their use. The use of anti-IL-17 therapies in SLE is a promising option, but not yet approved. Future studies of these cytokines in large cohorts will provide valuable information for the management of SLE.

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A TNFR2 3′ flanking region polymorphism in systemic lupus erythematosus

Cited by 6 publications

References 27 publications

New single nucleotide polymorphisms in the coding region of human TNFR2: association with systemic lupus erythematosus

New single nucleotide polymorphisms in the coding region of human TNFR2: association with systemic lupus erythematosus

Tumor necrosis factor‑α in systemic lupus erythematosus: Structure, function and therapeutic implications (Review)

Cytokines in Systemic Lupus Erythematosus—Focus on TNF-α and IL-17

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