Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population

Cuenca, Jimena; Pérez, Claudio; Aguirre, Adam; Schiattino, Irene; Aguillón, JC

doi:10.4067/s0716-97602001000300011

Cited by 33 publications

(25 citation statements)

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“…This difference in the distribution of TNF-α promoter polymorphism may be attributed to ethnicity. Significant ethnic variations in TNF-α genotypes have been reported in healthy individuals as well as among patients with other diseases (Cuenca et al, 2001;Nemec et al, 2008;Al-Rayes et al, 2011). Linkage and association studies have also provided strong evidence for the presence of multiple vitiligo susceptibility genes on different chromosomes.…”

Section: Discussionmentioning

confidence: 97%

“…Moreover, polymorphism at -308 in the TNF-α promoter has a direct effect on TNF-α gene regulation and may be responsible for the association of allele A with the high TNF-α phenotype and more severe disease (Wilson et al, 1997). Further populations bearing a higher proportion of the TNF-α 2-allele (A allele) are reportedly predisposed to several metabolic, degenerative, inflammatory, and autoimmune diseases (Cuenca et al, 2001;Aguillón et al, 2002).…”

Section: Discussionmentioning

confidence: 99%

“…TNF-α promoter polymorphism leads to a less common allele A (2-allele), which has been associated with increased TNF production in vitro (Braun et al, 1996) and a higher rate of TNF transcription than that associated with the wild-type GG genotype (Wilson et al, 1997). It has also been linked to increased susceptibility to several chronic metabolic degenerative, inflammatory, and autoimmune diseases (Cuenca et al, 2001;Qidwai and Khan, 2011). Conversely, in the TNF-β gene, a polymorphism at nucleotide position +252 within the first intron (A252G) (rs909253) affects a phorbol ester-responsive element.…”

Section: Introductionmentioning

confidence: 99%

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Tumor necrosis factor-α and -β genetic polymorphisms as a risk factor in Saudi patients with vitiligo

Al-Harthi

Zouman²,

Arfin³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Vitiligo is an acquired depigmentary disorder of the skin, characterized by multiple susceptibility loci and genetic heterogeneity. The etiology of vitiligo is unknown but several hypotheses, including an autoimmune origin, have been proposed. Tumor necrosis factor (TNF)-α, a pleiotropic proinflammatory cytokine, has been shown to play a critical role in several autoimmune diseases including vitiligo. The aim of present study was to determine the association of TNF-α and -β gene polymorphisms with vitiligo in Saudi patients. TNF-α and -β genes were amplified in 123 Saudi patients and 200 matched controls using polymerase chain reaction to search for polymorphisms involved at positions -308, and intron 1 +252. The frequency of the TNF-α (-308) GA genotype was higher and the frequencies of the GG and AA genotypes were significantly lower in vitiligo patients compared to controls. These findings suggested that genotype GA-positive individuals at position -308 of TNF-α are susceptible to vitiligo, whereas the GG and AA genotypes might exert a protective effect. The frequency of allele A (TNF-α 2-allele) was significantly higher and that of allele G (TNF-α 1-allele) was lower in vitiligo patients compared to controls, indicating an association of allele A with susceptibility to TNF-α and -β polymorphisms in vitiligo vitiligo in Saudi patients. The results of our examination of TNF-β (intron 1 +252) polymorphisms showed a significant increase in the frequency of the GG genotype and allele G (TNF-b 1-allele) in vitiligo patients, suggesting a susceptibility of the GG genotype and allele G for vitiligo. By contrast, the high frequency of the GA genotype in controls might indicate a protective effect. The results of the present study strongly support a link between TNF-α (-308) and -β (intron 1 +252) polymorphisms and vitiligo in Saudi patients.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Tumor necrosis factor-α and -β genetic polymorphisms as a risk factor in Saudi patients with vitiligo

Al-Harthi

Zouman²,

Arfin³

et al. 2013

Genet. Mol. Res.

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“…For example, cerebral malaria has been associated with the TNFa (À308) 'A' allele, while severe malarial anemia was associated with the TNFa (À238) 'A' allele. 35,36 Studies have shown a higher TNFa production phenotype in carriers with the 'A' allele suggesting that polymorphisms in the TNFa promoter region may have a direct affect on the outcome of malaria and other infectious diseases. [16][17][18] Similarly, IFNg has an important role in a host's resistance to M. tuberculosis although IFNg production cannot adequately control the infection without the presence of other critical cytokines.…”

Section: Discussionmentioning

confidence: 99%

“…30,31 To date, eight DNA variants have been identified in the TNFa promoter (À1031T/C, À863C/A, À857C/T, À575G/A, À376G/A, À308G/A, À244G/A and À238G/A) and some of these polymorphisms have been linked to ethnicity and disease susceptibility and outcome. [32][33][34][35] Certain SNPs in the TNFa promoter region have been implicated in the pathogenesis of infectious diseases such as malaria. For example, cerebral malaria has been associated with the TNFa (À308) 'A' allele, while severe malarial anemia was associated with the TNFa (À238) 'A' allele.…”

Section: Discussionmentioning

confidence: 99%

Differential cytokine genotype frequencies among Canadian Aboriginal and Caucasian populations

et al. 2004

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Genetic diversity related to the human immune response is a key factor in individual and population survival throughout human history. Population diversity in disease susceptibility and resistance have been identified and linked to differences in cytokine mRNA and protein expression levels. Polymorphisms in the regulatory regions of cytokine genes can influence gene transcription levels and they have been associated with susceptibility to, and/or severity of, autoimmune disorders such as rheumatoid arthritis, meningococcus and sepsis. It is reported here that in two study populations, Canadian Aboriginal individuals have a higher frequency of cytokine single-nucleotide polymorphisms favouring a low production of TNFa, IFNg and IL-10 and high production of IL-6 as compared to a Caucasian population. We postulate that the evolution of this unique cytokine genotype profile may be linked to the Aboriginal adaptation to selection pressures related to an environment in which helminthic, parasitic and fungal infections predominated.

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Lack of association with TNF-α-308 promoter polymorphism in patients with vitiligo

et al. 2006

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Vitiligo is an acquired depigmentary disorder of the skin, characterized by incomplete penetrance, multiple susceptibility loci and genetic heterogeneity. An immunologic hypothesis is currently advanced as a possible pathogenesis of vitiligo. The cytokines have an important role in pathogenesis of autoimmunity in which tumor necrosis factor-alpha (TNF-alpha), a paracrine inhibitor of melanocytes, is especially important. Several single-nucleotide polymorphisms (SNP) have been identified in the human TNF gene promoter. The polymorphism at position -308 (TNF-308), which involves substituting G for A and designing the AA genotype, leads to a higher rate of TNF gene transcription than the wild-type GG genotype in in vitro expression studies. It has also been linked to increased susceptibility to several chronic metabolic, degenerative, inflammatory and autoimmune diseases. Therefore, we investigated the TNF-alpha-308 SNP in patients with vitiligo. We examined 61 patients with vitiligo. Healthy age-, ethnically- and sex-matched individuals (n = 123) served as controls. Polymerase chain reaction amplification was used for analysis of the polymorphism at position -308 in promoter of TNF-alpha gene. We found that the distribution of TNF-alpha genotypes in vitiligo patients did not differ from that in control subjects (P > 0.05). Moreover, there was no association between TNF-alpha genotypes and types of vitiligo. In conclusion, we suggest that TNF-alpha-308 SNP is not a genetic risk factor for vitiligo susceptibility.

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Genetic polymorphism at position -308 in the promoter region of the tumor necrosis factor (TNF): Implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population

Cited by 33 publications

References 20 publications

Tumor necrosis factor-α and -β genetic polymorphisms as a risk factor in Saudi patients with vitiligo

Tumor necrosis factor-α and -β genetic polymorphisms as a risk factor in Saudi patients with vitiligo

Differential cytokine genotype frequencies among Canadian Aboriginal and Caucasian populations

Lack of association with TNF-α-308 promoter polymorphism in patients with vitiligo

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