Correlation of Tumor Necrosis Factor-α −308G&gt;A Polymorphism with Susceptibility, Clinical Manifestations, and Severity in Behçet Syndrome: Evidences from an Italian Genetic Case–Control Study

Padula, Maria Carmela; Leccese, Pietro; Lascaro, Nancy; Radice, Rosa Paola; Limongi, Antonina Rita; Sorrento, Giusi Gaia; Carbone, Teresa; Padula, Angela; Martelli, Giuseppe; D’Angelo, Salvatore

doi:10.1089/dna.2020.5361

Cited by 3 publications

(8 citation statements)

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“…TNFα is a pleiotropic pro-inflammatory cytokine, which is a mediator of many immunologic and metabolic effects and stimulates the production of other proinflammatory cytokines such as IL-6 and IL-1 [ 17 ]. Many studies have focused on two variants of promoter gene polymorphisms of TNFα such as -308G > A (rs1800629) and TNFα -238G > A, that were found to affect TNFα production in CHD and chronic diseases [ 12 , 18 ]. Although they could not fully investigate the effect of these polymorphism on transcription factors, Jun Pan et al studied the association of the TNFα -308G > A (rs1800629) gene polymorphism with susceptibility to CHD [ 12 ].…”

Section: Dıscussıonmentioning

confidence: 99%

Associations between IL-1α, IL-1β, TNFα, and IL-6 variations, and susceptibility to transposition of the great arteries

Karakaş

Tugrul

Uysal

et al. 2022

BMC Cardiovasc Disord

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Background To evaluate the relationship between IL-1α -889C/T (rs1800587), IL-1β -511C > T (rs16944), TNFα -308G > A (rs1800629), TNFα -238G > A (rs361525), IL-6 -174G > C (rs1800795), and IL-6 -572G > C (rs1800796) polymorphisms and the susceptibility to transposition of the great arteries (TGA). Methods A prospective analysis was performed on mothers whose newborns were diagnosed as having TGA. For each case of TGA, a mother who gave birth to a healthy neonate in the same period was randomly selected for the control group. The sample size was calculated before planning the study with 80% power and 5% alpha. Results Twenty-seven mothers whose newborn had TGA anomalies (group 1) and 27 mothers whose newborn had no TGA (group 2) were included in the study. There were no significant differences between the groups in terms of maternal age, pregestational body mass index, gestational age at birth and infant sex (p > 0.05). The genotype and allele distributions of IL-1α -889C/T (rs1800587), IL-1β -511C > T (rs16944), TNFα -308G > A (rs1800629), TNFα -238G > A (rs361525), IL-6 -174G > C (rs1800795) and IL-6 -572G > C (rs1800796) gene variants were not different between the two groups (p > 0.05). Conclusions There was no relation between IL-1α, IL-1β, IL-6, and TNFα promoter gene polymorphisms and TGA occurrence in our study group. Trial registration: This present prospective case–control study was conducted in Baskent University Hospital, Ankara, Turkey, between May 2020 and November 2021. Ethical approval was obtained from the university’s Clinical Research Ethics Commitee (No: KA20/211) in accordance with the Declaration of Helsinki.

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Section: Dıscussıonmentioning

confidence: 99%

Associations between IL-1α, IL-1β, TNFα, and IL-6 variations, and susceptibility to transposition of the great arteries

Karakaş

Tugrul

Uysal

et al. 2022

BMC Cardiovasc Disord

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“…Tumor Necrosis Factor-alpha ( TNFα ) is a pleiotropic cytokine involved in the regulation of a wide spectrum of biological processes, including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, cancer, and also in the current pandemic coronavirus infectious disease (COVID-19) [ 1 , 2 , 3 , 4 , 5 ]. Its critical role has also been reported in the pathogenesis of several systemic rheumatic diseases, including Behçet syndrome (BS), a chronic vasculitis characterized by partially unknown etiology and wide clinical heterogeneity [ 2 , 6 , 7 , 8 , 9 , 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

“…This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, cancer, and also in the current pandemic coronavirus infectious disease (COVID-19) [ 1 , 2 , 3 , 4 , 5 ]. Its critical role has also been reported in the pathogenesis of several systemic rheumatic diseases, including Behçet syndrome (BS), a chronic vasculitis characterized by partially unknown etiology and wide clinical heterogeneity [ 2 , 6 , 7 , 8 , 9 , 10 , 11 ]. BS clinical signs range from mucocutaneous, articular, vascular, and gastrointestinal involvement, to ocular and neurologic involvement.…”

Section: Introductionmentioning

confidence: 99%

“…These clinical manifestations may co-exist in the same patient, defining a broad spectrum of clinical phenotypes [ 6 , 7 , 8 , 9 , 10 , 11 ]. Both genetics and environmental factors are involved in disease etiopathogenesis [ 2 , 7 , 8 , 10 , 11 , 12 , 13 , 14 ]. Human leukocyte antigen (HLA)-B*51 was the most strongly associated genetic marker of BS [ 10 , 11 , 12 , 13 , 14 ].…”

Section: Introductionmentioning

confidence: 99%

“…Other non-HLA genetic loci were identified within genes mainly involved in the inflammation and immunity processes. In fact, the associations with BS susceptibility were demonstrated for several genes, such as Endoplasmic reticulum aminopeptidase 1 (ERAP1) and Interleukin 10 (IL10) and IL23R-IL12RB2 , as well as TNFα [ 2 , 10 , 13 , 14 ].…”

Section: Introductionmentioning

confidence: 99%

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TNFα rs1800629 Polymorphism and Response to Anti-TNFα Treatment in Behçet Syndrome: Data from an Italian Cohort Study

Padula,

D’Angelo

et al. 2023

JPM

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Tumor Necrosis Factor-alpha (TNFα) rs1800629 (-308G>A) is a single nucleotide polymorphism (SNP) related to variable responses to anti-TNFα therapy. This therapy is efficient in severe and refractory manifestation of Behçet syndrome (BS), an auto-inflammatory systemic vasculitis. We investigated (1) the association between rs1800629 genotypes and responses to therapy and (2) the correlation between SNP and clinical patterns in a cohort of 74 BS Italian patients receiving anti-TNFα therapy with a follow-up of at least 12 months. The rs1800629 was genotyped through amplification, direct sequencing and bioinformatics analyses. The rs1800629 GG and GA genotypes were assessed as predictors of outcomes dividing the patients between therapy responders and non-responders. The rs1800629 GG and GA genotypes were found, respectively, in 59/74 (79.7%) and 15/74 BS patients (21.3%) (p < 0.05). We identified 16/74 (21.9%) non-responder patients, of which 9/16 (56.3%) showed the GG genotype and 7/16 (43.7%) the GA genotype. A total of 50/58 (86.2%) responder patients showed the GG genotype, and 8/58 (13.8%) the GA genotype (p < 0.05). The percentage of non-responder females (68.8%) was significantly higher than non-responder males (31.2%) (p < 0.05). No correlation between SNP and clinical patterns was observed. To successfully include rs1800629 as a predictive biomarker of TNFα inhibitor response, genome-wide association studies in larger, well-characterised cohorts are required.

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Genetics in Behcet’s Disease: An Update Review

Gao¹,

Zhong²,

Yang³

2022

Front. Ophthalmol.

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Behcet’s disease (BD) is one of the most vision-threatening clinical entities of uveitis. Although the etiopathogenesis of BD remains obscure, accumulating evidence has demonstrated that both genetic and environmental factors may contribute to the development of BD. Genome-wide association studies (GWAS) and candidate association studies have identified several genetic variants strongly associated with BD, including variants in human leukocyte antigen (HLA) -A02, -A03, -A24, -A26, -A31, -B15, -B27, -B35, -B49, -B51, -B57, -B58, -C0704, CIITA, ERAP1, MICA, IL1A-IL1B, IL10, IL12, IL23R, IL-23R/IL-12RB2, IL1RL1-IL18R1, STAT4, TFCP2L1, TRAF5, TNFAIP3, CCR1/CCR3, RIPK2, ADO-ZNF365-EGR2, KLRC4, LACC1, MEFV, IRF8, FUT2, CEBPB-PTPN1, ZMIZ1, RPS6KA4, IL10RA, SIPA1-FIBP-FOSL1, VAMP1, JRKL/CTCN5, IFNGR1 and miRNA-146a. Epigenetic modifications are also reported to play essential roles in the development of BD, including DNA methylation and histone modification. We review here the recent advances in the genetic and epigenetic factors associated with the BD pathogenesis.

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Correlation of Tumor Necrosis Factor-α −308G>A Polymorphism with Susceptibility, Clinical Manifestations, and Severity in Behçet Syndrome: Evidences from an Italian Genetic Case–Control Study

Cited by 3 publications

References 34 publications

Associations between IL-1α, IL-1β, TNFα, and IL-6 variations, and susceptibility to transposition of the great arteries

Associations between IL-1α, IL-1β, TNFα, and IL-6 variations, and susceptibility to transposition of the great arteries

TNFα rs1800629 Polymorphism and Response to Anti-TNFα Treatment in Behçet Syndrome: Data from an Italian Cohort Study

Genetics in Behcet’s Disease: An Update Review

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