TNFA gene in Brazilian patients with hemorrhagic stroke and cerebral
            aneurysm

Borges, Felipe Silva Alves; Freitas, Renata S.; Morais, Rafael Martins de; Funghetto, Silvana Schwerz; Nóbrega, Otávio de Tolêdo; Ferreira, Luzitano Brandão; Freire, Daniel; Souza, Hélia Carla; Silva, Izabel Cristina Rodrigues da

doi:10.5935/1676-2444.20180029

“…The pooled results showed that TNF-α rs1800629 polymorphism is associated with IA, suggesting that inflammatory cytokines, especially TNF-α, are associated with IA. Borges, et al 13 Sathyan, et al 17 Fontanella, et al 14 Overall (I-squared=35.6%, p=0.212)…”

Section: Discussionmentioning

confidence: 98%

“…Sathyan, et al 17 Fontanella, et al 18 Overall (I-squared=0.0%, p=0.590) 12 Sathyan, et al 17 Pera, et al 20 Fontanella, et al 21 Morgan, et al TNF-α is located at chromosome 6p21.3 and is a powerful pro-inflammatory cytokine that plays a key role in initiating and regulating the cascade events of the inflammatory response: 28 it can activate proteolytic enzymes that destroy endothelial cells. 13 TNF-α has been shown to be associated with the occurrence of many diseases, including inflammatory diseases. 31 In this article, we found that TNF-α rs1800629 played a protective role of IA in dominant and allelic models, indicating that TNF-α may be important in IA.…”

Section: Chinesementioning

confidence: 99%

“…9 Growing evidence indi-cates that inflammatory cytokines may be associated with the occurrence of IA, possibly through the phenotypic regulation of cerebral smooth muscle cells or systemic inflammation, 10 and several studies have investigated the possible associations between polymorphisms of inflammatory cytokine genes and risk of IA, although with inconsistent results. [11][12][13][14] The lack of reproducibility of association studies is probably due to population heterogeneity or small sample sizes with inadequate statistical power. Considering the insufficient evidence and inconclusive results about the genetic variants of inflammatory cytokine genes associated with IA risk, a systematic review and meta-analysis is important and necessary to assess the associations.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Polymorphisms of Inflammatory Cytokine Genes and Risk for Intracranial Aneurysm: A Systematic Review and Meta-Analysis

Hu

¹

,

Li

²

,

Liao

³

et al. 2020

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Purpose: Inflammatory cytokines are thought to be involved in the pathogenesis of intracranial aneurysm (IA), although results among studies in the literature are inconsistent. This article sought to review studies on the associations among polymorphisms in inflammatory cytokine genes and IA risk and to provide recommendations for future research. Materials and Methods: A systematic search of PubMed, Embase, and Web of Science was conducted up to August 4, 2019. The associations between polymorphisms of inflammatory cytokine genes and IA risk were estimated by pooled odds ratios (ORs) and 95% confidence intervals (CIs). Subgroup analyses were performed according to race. Qualitative systematic review was conducted for variants that were studied in only one study. All analyses were performed using STATA 12.0. Results: 13 studies investigating the associations between polymorphisms in five inflammatory cytokine genes (TNF-α, IL-1α, IL-1β, IL6, and IL-12B) and IA were reviewed. Combined results showed that the A allele of TNF-α rs1800629 polymorphism has a protective effect against IA (dominant model: OR=0.65, 95% CI=0.47-0.89, p=0.007). No associations were identified between polymorphisms in IL-1α rs1800587, IL-1β rs16944, IL6 rs1800795 and rs1800796, or IL-12B rs3212227 and IA risk. Conclusion: This review demonstrated an association between TNF-α rs1800629 polymorphism and IA in Caucasians, illustrating the potentially important role of genes involved in inflammation in IA.

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“…The number of alleles and genotypes at -308 could be compared with other populations. GG genotype was more than AA and AG in the Brazilian population (Borges et al, 2018). In the Chinese population, the G allele was more common than the A allele, and the genotypes found in the population more are GG and the least AA genotypes were found (Chen et al, 2018).…”

Section: Polymorphism Detectionmentioning

confidence: 78%

IDENTIFICATION OF -308 TNF-α PROMOTER SINGLE NUCLEOTIDE POLYMORPHISM IN ACTIVE AND PASSIVE SMOKERS

Pollo

¹

,

Rumende

²

,

Tallei

³

2019

JIS

0

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IDENTIFICATION OF -308 TNF-α PROMOTER SINGLE NUCLEOTIDE POLYMORPHISM IN ACTIVE AND PASSIVE SMOKERS ABSTRACTTumour necrosis factor-α (TNF-α) is one of the pro-inflammatory cytokines that play a role in the inflammatory process, immune system development, and apoptosis. This protein is encoded by the TNF-α gene. Several studies had linked the presence of polymorphisms in the TNF-α promoter region with susceptibility to the onset of chronic obstructive pulmonary disease (COPD) in active and passive smokers. This study aimed to identify and analyze the nucleotide polymorphism in TNF-α gene promoter regions in active and passive smokers in Manado. The method used in this study included blood sampling, DNA extraction, amplification of -308 TNF-α promoter region, sequencing and data analysis. The softwares used for data analysis were Geneious, Multalin, Clustal Omega and DnaSP. DnaSP was used to compute the level of polymorphism based on haplotype statistics. The results did not show single nucleotide polymorphism at position -308 in TNF-α gene promoters in active and passive smokers. This was because at that position, the nucleotides were both in the form of guanosine monophosphate and there were no mutation caused by cigarette smoke exposure.Keywords: active smoker, passive smoker, single nucleotide polymorphism, TNF-α promoter DETEKSI POLIMORFISME NUKLEOTIDA TUNGGAL-308 PROMOTERTNF-α PADA PEROKOK AKTIF DAN PASIF ABSTRAKTumor necrosis factor-α (TNF-α) merupakan salah satu sitokin pro-inflamasi yang berperan dalam proses inflamasi, perkembangan sistem imun, dan apoptosis. Protein ini dikode oleh gen TNF-α. Beberapa penelitian telah mengkaitkan adanya polimorfisme pada daerah promoter TNF-α dengan kerentanan terhadap timbulnya chronic obstructive pulmonary disease (COPD) pada perokok aktif maupun pasif. Penelitian ini bertujuan untuk mengidentifikasi dan menganalisis polimorfisme nukleotida tunggal pada posisi -308 dari promoter gen TNF-α perokok aktif dan pasif. Metode yang digunakan dalam penelitian ini meliputi pengambilan sampel darah, ekstraksi DNA, amplifikasi daerah -308 promoter gen TNF-α, sekuensing serta analisis data. Analisis data menggunakan perangkat lunak Geneious, BLAST, Multalin, Clustal Omega dan DnaSP. Perangkat DnaSP akan mengkomputasi tingkat polimorfisme berdasarkan statistik haplotype-based. Hasil yang didapatkan menunjukkan bahwa polimorfisme nukleotida tunggal pada posisi -308 dari promoter gen TNF-α antara perokok aktif dan pasif tidak ditemukan. Hal ini dikarenakan oleh pada posisi tersebut, nukleotidanya sama-sama berbentuk guanosin monofosfat dan tidak terjadi mutasi akibat pengaruh paparan asap rokok.Kata kunci: perokok aktif, perokok pasif, single nucleotide polymorphism, TNF-α promoter

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“…The mechanism of inflammation involved in IA may be related to the inflammation-induced vascular endothelial damage, the degenerative vascular wall remodeling, and a high blood flow, including increased vascular wall shear stress [ 12 , 13 ]. Candidate gene association studies revealed that polymorphisms in interleukin 1 ( IL1 ), interleukin 6 ( IL6 ), interleukin 12 ( IL12 ), and tumor necrosis factor- α ( TNF-α ) genes are associated with IA in several populations [ 14 – 17 ]. Therefore, inflammation may play an important role in the formation of IA, and inflammatory cell infiltration could be considered as a sign of pathological changes in IA.…”

Section: Introductionmentioning

confidence: 99%

Associations between Inflammatory Cytokine Gene Polymorphisms and Susceptibilities to Intracranial Aneurysm in Chinese Population

Xu

¹

,

Hu

²

,

Hu

³

et al. 2021

BioMed Research International

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Intracranial aneurysm (IA) is a complex disease caused by genetic and environmental factors. Evidence indicates that inflammation plays an important role in IA occurrence. We aimed to explore the associations between inflammatory cytokine gene polymorphisms and IA in a Chinese population. This study enrolled 768 participants of Han ethnicity, including 384 patients with IA and 384 healthy individuals. Sixteen single nucleotide polymorphisms (SNPs) of IL1, IL6, IL12, and TNF-α genes were genotyped using the Sequenom MassARRAY platform. Univariate and multivariate logistic regression analyses were used to analyze the associations. We found IL12B rs3181216 was significantly associated with IA in the recessive and additive models ( OR = 0.46 , 95% CI = 0.23–0.89, P = 0.022 ; OR = 0.74 , 95% CI = 0.56–0.98, P = 0.034 , respectively). TNF-α rs1799964 was associated with IA in dominant and additive models ( OR = 0.67 , 95% CI = 0.46–0.98, P = 0.041 ; OR = 0.71 , 95% CI = 0.51–0.98, P = 0.034 , respectively). IL1A rs17561 was associated with single IA susceptibility (dominant model: OR = 0.52 , 95% CI = 0.31–0.85, P = 0.040 ). The IL12B rs3181216 polymorphism was associated with single IA susceptibility in the recessive model ( OR = 0.41 , 95% CI = 0.18–0.93, P = 0.033 ). The IL12B rs2195940 polymorphism was associated with multiple IAs susceptibility (dominant model: OR = 0.28 , 95% CI = 0.09–0.89, P = 0.031 ; additive model: OR = 0.28 , 95% CI = 0.09–0.90, P = 0.032 ). TNF-α rs1799964 was associated with multiple IAs susceptibility in the dominant model ( OR = 0.54 , 95% CI = 0.30–0.97, P = 0.040 ). No associations were found between other polymorphisms and IA susceptibility. Therefore, IL1A, IL12B, and TNF-α gene polymorphisms are associated with IA susceptibility in a Chinese population.

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TNFA gene in Brazilian patients with hemorrhagic stroke and cerebral aneurysm

Cited by 4 publications

References 0 publications

Polymorphisms of Inflammatory Cytokine Genes and Risk for Intracranial Aneurysm: A Systematic Review and Meta-Analysis

Polymorphisms of Inflammatory Cytokine Genes and Risk for Intracranial Aneurysm: A Systematic Review and Meta-Analysis

IDENTIFICATION OF -308 TNF-α PROMOTER SINGLE NUCLEOTIDE POLYMORPHISM IN ACTIVE AND PASSIVE SMOKERS

Associations between Inflammatory Cytokine Gene Polymorphisms and Susceptibilities to Intracranial Aneurysm in Chinese Population

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