The -308 polymorphism in the tumour necrosis factor (TNF) gene promoter region and ex vivo lipopolysaccharide-induced TNF expression and cytotoxic activity in Chilean patients with rheumatoid arthritis

Cuenca, Jimena; Cuchacovich, Miguel; Pérez, Claudio; Ferreira, Lorena; Aguirre, Adam; Schiattino, Irene; Soto, Lilian; Cruzat, Andrea; Salazar‐Onfray, Flavio; Aguillón, Juan Carlos

doi:10.1093/rheumatology/keg092

Cited by 39 publications

(31 citation statements)

References 33 publications

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“…Some researchers suggested that a variant allele of -863 C > A polymorphism provides enhanced promoter activity and high TNF-alpha expression (14,15). High TNF-alpha levels can play a role in JIA (16). The current study revealed that TNF-alpha-863 C/C genotype is a risk factor for JIA development.…”

Section: Discussionsupporting

confidence: 46%

TNF-alpha 863C > A promoter and TNFRII 196T > G exonic variationsmay be risk factors for juvenile idiopathic arthritis

Batar¹,

Özman²,

Barut³

et al. 2017

Turk J Med Sci

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Background/aim: Juvenile idiopathic arthritis (JIA) is a chronic complex autoimmune disease. Genetic and environmental factors increase the risk of JIA. It is accepted that alterations in immune system pathways play an important role in the pathogenesis of JIA. The aim of the study was to investigate the possible association between immune system regulatory gene polymorphisms and JIA in Turkish patients.

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Section: Discussionsupporting

confidence: 46%

TNF-alpha 863C > A promoter and TNFRII 196T > G exonic variationsmay be risk factors for juvenile idiopathic arthritis

Batar¹,

Özman²,

Barut³

et al. 2017

Turk J Med Sci

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“…Functional single nucleotide polymorphism (SNP) at positions −308 (rs1800629) and −1031 (rs1799964) of human TNF-α gene have been shown to be linked with altered promoter activity with different plasma levels of TNF-α in healthy individuals [23]. Among these SNP's the A allele of rs1800629 and the C allele of rs1799964 polymorphisms has been shown to be associated with increasing TNF-α expression [9].…”

Section: Introductionmentioning

confidence: 99%

TNF-α haplotype association with polycystic ovary syndrome – a South Indian study

Deepika¹,

Reddy²,

Yashwanth³

et al. 2013

J Assist Reprod Genet

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Background Tumor Necrosis Factor Alpha (TNF-α), is a proinflammatory cytokine in the pathogenesis of Polycystic Ovary Syndrome (PCOS). In order to investigate the role of rs1800629 and rs1799964 polymorphisms in relation to anthropometric measures, family history of complex diseases, diet and clinical features, we performed a case control study in PCOS women from South India. Methods A total of 589 samples comprising of 283 patients and 306 controls were enrolled in the present study. Patients were selected based on Rotterdam criteria and ultrasound scanned normal women were selected as controls. Following extraction of DNA, genotyping for rs1800629 and rs1799964 was performed by polymerase chain reaction using tetra primers and PCR-RFLP respectively. Results The distribution of genotypes for rs1799964 was significantly different between the groups (p =0.001), however it was not for rs1800629. Haplotype analysis revealed a significant difference between patients and controls. The predisposing and protective role of haplotype with mutant allele at both loci (combination 3) and haplotype with mutant allele at either loci was reflected by the over representation of combination 3 in patients and combination 2 in controls respectively. In addition, rs1799964 showed an association with dietary habit, clinical hyperandrogenism and AAO. The modifying role of TT genotype on age at onset was noted in quartile analysis. ConclusionReplicative studies on the influence of TNF-α polymorphism in different ethnic groups may identify the potentiality of these polymorphisms as markers of inflammation and in turn may help the clinicians for the better management of the condition.

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“…Although the circulating TNF levels are highly variable , up-regulation of TNF gene expression has been involved in the pathogenesis of a large variety of illnesses with inflammatory and autoimmune components, some of which are associated with MHC class II molecules, including systemic lupus erythematosus (Jacob et al, 1990), rheumatoid arthritis (RA) (Breunan et al, 1992;Cuenca et al, 2003), inflammatory bowel diseases (Bouma et al, 1996), and ankylosing spondilitis (Rudwaleit et al, 2001). Another group includes acute and chronic infectious processes, such as septic shock syndrome (Tracey and Cerami, 1993), cerebral malaria (McGuire et al, 1994), and acquired immunodeficiency syndrome (Hober et al, 1989).…”

Section: Introductionmentioning

confidence: 99%

Could single-nucleotide polymorphisms (SNPs) affecting the tumour necrosis factor promoter be considered as part of rheumatoid arthritis evolution?

et al. 2006

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The -308 polymorphism in the tumour necrosis factor (TNF) gene promoter region and ex vivo lipopolysaccharide-induced TNF expression and cytotoxic activity in Chilean patients with rheumatoid arthritis

Abstract: No associations were found between the -308 TNF promoter polymorphism, serum and ex vivo TNF levels and the cytotoxic activity of TNF in RA patients.

Cited by 39 publications

References 33 publications

TNF-alpha 863C > A promoter and TNFRII 196T > G exonic variationsmay be risk factors for juvenile idiopathic arthritis

TNF-alpha 863C > A promoter and TNFRII 196T > G exonic variationsmay be risk factors for juvenile idiopathic arthritis

TNF-α haplotype association with polycystic ovary syndrome – a South Indian study

Could single-nucleotide polymorphisms (SNPs) affecting the tumour necrosis factor promoter be considered as part of rheumatoid arthritis evolution?

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