Association between tumor necrosis factor alpha rs1800629 polymorphism and risk of osteoarthritis in a Chinese population

Chen, Jie; Wu, Yu Yu; Yu, Jiannong; Shen, Jin‐Ming

doi:10.1590/1414-431x20187311

Cited by 16 publications

(19 citation statements)

References 23 publications

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“…On the other hand, Sobhan et al [35] in a case-control study followed by a meta-analysis, demonstrated that this polymorphism in question may not be associated with susceptibility of OA, as other authors complement, ratifying the lack of relationship between the − 308 SNP TNF and OA [32,36]. In contrast, there are several studies with results agreeing with our data, where the presence of the A allele at position − 308 has a direct relation to the prevalence and severity of knee and hip OA [21,22,24,25,33,37], which is associated with a six-fold increase in transcriptional activity and higher levels of TNF-α protein [38,39]. In this same sense, Chen et al 2018 and Kou et al 2014 in metaanalyzes, with 983 and 257 cases of AO and 1355 and 305 controls, respectively, found an association between the − 308 G / A polymorphism of TNF in relation to the higher risk of OA.…”

Section: Discussionsupporting

confidence: 86%

“…Proinflammatory cytokines, such as TNF, are important mediators of this process by activating the production of metalloproteinases by chondrocytes, and stimulating the production of other proteins and cytokines, resulting in catabolic action and suppression of articular anabolism [16,31]. The polymorphisms of these cytokine genes are studied in understanding the complex etiology and pathophysiology of OA, representing a potential tool for identifying risk for the disease, which can be useful in preventive and clinical management [21,22,24,[27][28][29][30][32][33][34]. In this study we assessmnent the polymorphism − 308 G/A TNF with the presence and severity of OA in the elderly.…”

Section: Discussionmentioning

confidence: 99%

“…The TNF gene is located on 6p21, and a major polymorphisms involved in OA is the position -308 of the promoter region, with exchange of guanine for adenine (− 308 G/A; rs1800629). Several studies have shown that this polymorphism increase the genetic expression of this cytokine, related to higher prevalence of OA [18][19][20][21][22][23][24][25][26]. However, there is lack of information regarding a possible relationship between this genetic background and severity and functional status in elderly with OA.…”

Section: Introductionmentioning

confidence: 99%

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Functional status and severity of osteoarthritis in elderly is associated to the polymorphism of TNFA gene

Fernandes

Aníbal

et al. 2019

Adv Rheumatol

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Background: Osteoarthritis (OA) is a major musculoskeletal disease with high prevalence in the elderly. The study of genetic polymorphisms of inflammatory mediators involved in OA may contribute to the elucidation of the complex pathophysiology of this disease and identification of susceptibility individuals. Aim: This study aimed to evaluate the association between polymorphism at tumor necrosis factor alpha gene (SNP-308 G/A TNFA) with presence, severity and functional status of osteoarthritis in elderly. Methods: This study was characterized as case-control and encompassed 257 physically independent elderly (Mean Age: 68.55 ± 5.2; Minimum age: 60 and Maximum age: 82) were recruited. After this selection, the groups were divided in: 92 elderly individuals with osteoarthritis (case group) and 165 without the disease (control group). Methods: The individuals were genotyped by the TaqMan real-time PCR system. The subjects were classified based on the degree of radiological impairment according to the criteria of Kellgren-Laurence and regarding functional impairment using the WOMAC and LEQUESNE questionnaires. Results: TNFA gene polymorphic individuals (subjects harboring allele A) are more affected by OA (χ 2 = 8.7, p = 0.003), once they have major radiological lesion both in hip (Fisher-Freeman-Halton Test = 3.9, p = 0.04) and knee (Fisher-Freeman-Halton Test = 4.0, p = 0.04) as well as worse functional status assessed by the Lequesne questionnaire (Mann-Whitney, p = 0.04). At the multivariate analysis, after adjustment for age, gender, body mass index, the presence of rare allele for TNFA (allele A) increases the susceptibility to OA development [OR: 1.87 (95% CI: 1.1-3.2)]. Conclusion: We conclude that the SNP − 308 G/A of TNFA gene may affect osteoarthritis susceptibility, severity and functional status of individuals with osteoarthritis.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Functional status and severity of osteoarthritis in elderly is associated to the polymorphism of TNFA gene

Fernandes

Aníbal

et al. 2019

Adv Rheumatol

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“…Based on Multalin alignment, there was no polymorphism at the position of -308 TNF-α gene promoter in all sample sequences (active and passive smokers, non-smokers and subject samples). The nitrogen base in the nucleotide found in this position was guanine, although there are variations in polymorphism in the form of adenine (Chen et al, 2018). This does not show that although position -308 had polymorphism in other populations, there was no influence of cigarette smoke which causes nucleotide Figure 1.…”

Section: Polymorphism Detectionmentioning

confidence: 84%

“…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). Different results were shown in the North Indian population, where the A allele was more found (Kumari et al, 2018).…”

Section: Polymorphism Detectionmentioning

confidence: 97%

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

Pollo

Rumende

Tallei

2019

JIS

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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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Indirect influence of microRNA‐146a on the association of IL‐6 and TNF‐α genetic polymorphisms with the increased risk of hip osteoarthritis

Tudor,

Baranasic,

Knezevic

et al. 2024

Journal Orthopaedic Research

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Primary osteoarthritis (POA) is a complex hereditary disease that involves the interplay between genetics and epigenetics. MicroRNA molecules play important roles in epigenetic mechanisms. MicroRNA‐146a (miR‐146a) is a negative regulator of the immune response in osteoarthritis (OA). So, variations in the miR‐146a gene could affect OA risk. The aim of this study was to investigate the relationships between single nucleotide polymorphisms (SNPs) in the miR‐146a, interleukin‐6 (IL‐6), Toll‐like receptor 10 (TLR10), and tumor necrosis factor‐alpha (TNFA) genes and the risk for development of advanced‐stage primary hip osteoarthritis (PHOA) and primary knee osteoarthritis (PKOA) in the Croatian population. A total of 609 POA patients and 656 healthy donors were genotyped for SNPs in the miR‐146a (rs2910164, G>C). Since we used same patients and controls as two studies before us, we already had information about IL‐6 (rs1800795, C>G), TLR10 (rs11096957, C>T), and TNFA (rs1800629, C>T) genotypes of our subjects. None of the differences were statistically significant comparing either allelic or genotypic frequencies of miR‐146a SNP rs2910164 (G>C) between the PHOA and PKOA patients and controls. However, we found a significant association with risk to PHOA for the combination of genotypes (stratified miR‐146a genotype with the IL‐6, and stratified miR‐146a genotype with the TNFA). In a multifactorial disease such as POA, we have shown the indirect relevance of a second modifying factor (miR‐146a), which apparently contributes to the overall risk of PHOA. There was no risk association with the PKOA, indicating that these two localities (hip and knee) might have different risk‐modifying factors.

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Association between tumor necrosis factor alpha rs1800629 polymorphism and risk of osteoarthritis in a Chinese population

Cited by 16 publications

References 23 publications

Functional status and severity of osteoarthritis in elderly is associated to the polymorphism of TNFA gene

Functional status and severity of osteoarthritis in elderly is associated to the polymorphism of TNFA gene

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

Indirect influence of microRNA‐146a on the association of IL‐6 and TNF‐α genetic polymorphisms with the increased risk of hip osteoarthritis

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