A polymorphic variation in a putative regulation box of the TNFA promoter region

D’Alfonso, Sandra; Richiardi, P.

doi:10.1007/bf00188619

Cited by 263 publications

(191 citation statements)

References 31 publications

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“…Therefore, attention has focused on the TNF promoter, encouraged by the identification of a number of singlenucleotide polymorphisms (SNPs). Eight DNA variants or 'SNPs' have been described within the TNF promoter, at positions À1031T/C, À863C/A, À857C/T, À575G/A, À376G/A, À308G/A, À244G/A, and À238G/A [10][11][12][13][14][15][16] relative to the transcription start site (Figure 1). The interest in these genetic variants derives from the possibility that the genetic changes they introduce, in comparison to the common form, could affect the binding of transcription factors, controlling the activity of the promoter and resulting mRNA and protein levels.…”

Section: Introductionmentioning

confidence: 99%

Is there a future for TNF promoter polymorphisms?

2004

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The in vitro study of TNF promoter polymorphism (SNP) function was stimulated by the numerous case-control (association) studies of the polymorphisms in relation to human disease and the appearance of several studies claiming to show a functional role for these SNPs provided a further impetus to researchers interested in the role of TNF in their disease of interest. In this review we consider case-control studies, concentrating on the autoimmune and inflammatory diseases rheumatoid arthritis, multiple sclerosis, ankylosing spondylitis, and asthma, and on infectious diseases including malaria, hepatitis B and C infection, leprosy and sepsis/septic shock. We also review the available evidence on the functional role of the various TNF promoter polymorphisms. In general, case-control studies have produced mixed results, with little consensus in most cases on whether any TNF polymorphisms are actually associated with disease, although results have been more consistent in the case of infectious diseases, particularly malaria. Functional studies have also produced mixed results but recent work suggests that the much studied À308G/A polymorphism is not functional, while the function of other TNF polymorphisms remains controversial. Studies of the TNF region are increasingly using extended haplotypes that can better capture the variation of the MHC region.

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Section: Introductionmentioning

confidence: 99%

Is there a future for TNF promoter polymorphisms?

2004

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“…A wide range of TNF␣ production has been observed and can be attributed to polymorphisms in the TNF␣ promoter and their corresponding extended HLA haplotypes. 13 In particular, two common biallelic variants at the −238 (G or A) and −308 (G or A) positions of the TNF␣ promoter have been the first to receive attention, 14,15 with the −308A (TNF2) being associated with enhanced promoter activity by in vitro assay. 16,17 In addition, LT␣ and TNFR1 also carry polymorphisms, which include a variable number of dinucleotide (CT/GA) repeat sequences (TNFc microsatellite) in the first intron of LT␣, an amino acid substitution in exon-1 (amino acid 26 Thr/Asn) in LT␣, 18 and an A-to-C nucleotide substitution in the TNFR1 promoter.…”

Section: Introductionmentioning

confidence: 99%

Tumor necrosis factor gene polymorphisms in patients with cirrhosis from chronic hepatitis C virus infection

et al. 2000

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Pro-inflammatory cytokines including tumour necrosis factor (TNF) mediate the pathogenesis of hepatitis C virus (HCV) infection. The distribution of TNF gene polymorphisms was examined among cirrhotic and non-cirrhotic patients infected with HCV. Thirty Caucasians with cirrhosis due to chronic HCV infection and 114 HCV-infected patients histopathologically free of cirrhosis were genotyped for genetic variants in TNF, lymphotoxin ␣ and TNF-receptor type I using PCR-based techniques. Variability in the progression of HCV-related cirrhosis was assessed in a multivariate model including genetic and non-genetic factors such as gender, estimated duration of infection, alcohol consumption, and viral genotype. Viral genotype and non-genetic host features were not independently related to the occurrence or rate of development of cirrhosis in the patient population. In contrast, the TNF promoter variants TNF2 (−238A) and TNF3 (−308A) conferred a 3.2-fold and 5.1-fold risk of cirrhosis respectively (P = 0.03 for both). Reciprocal effects were observed with several TNF alleles and haplotypes defined by the −238G/A and −308G/A dimorphic sequences. Polymorphisms in the TNF␣ promoter appear to be associated with variability in the histological severity of chronic hepatitis C infection. Genes and Immunity (2000) 1, 386-390.

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“…Moreover, the DNA sequences determine a phenotype. A polymorphism in TNFA gene is determined not only by direct sequencing (Messer et al, 1991) but also by other methods: i.e., polymerase chain reaction NeoI restriction fragment length polymorphism (PCR-NcoI-RFLP) typing (Wilson et al, 1992), polymerase chain reaction single strand conformational polymorphism typing (PCR-SSCP) (Wilson et al, 1993), and polymerase chain reaction allele specific oligonucleotide typing (PCR-ASO) (D'Alfonso and Richiardi, 1994). We applied the PCR-NcoI-RFLP method to screen polymorphic variations at position --308 of the TNFA promoter in unrelated Korean individuals.…”

Section: Introductionmentioning

confidence: 99%

“…Recently the polymorphism of the human TNFA promoter at different region was reported (Messer et al, 1991;D'Alfonso and Richiardi, 1994). The other biallelic polymorphism at position of --238 was observed including the substitution of guanine by adenosine using PCR-ASO (presence of A sequence= TFNA-A allele, presence of G sequence= TNFA-G allele) typing.…”

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confidence: 99%

“…It was suggested that TNFA expression depends on polymorphic variations of TNFA promoter region itself or linkage association with HLA genotype (Molvig Han et al, 1990Han et al, , 1991Wilson et al, 1993;D'Alfonso and Richiardi, 1994). Wilson et al (1993) postulated that TNFA promoter region to be important in regulation of transcription and described a very strong association between the TNFA*2 allele and HLA AI, BS, DR3 and DQ2 haplotype.…”

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confidence: 99%

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NcoI restriction fragment length polymorphism at — 308 of the tumor necrosis factor alpha (TNFA) promoter region in korean

Park

Kim²,

Mok

1997

Jap J Human Genet

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SummaryTumor necrosis factor alpha (TNFA) is a cytokine, which is secreted from activated macrophage, with a broad range of biological activities. The gene encoding TNFA is located in tandem with the TNFB gene within the HLA complex on chromosome 6p21.3. We detected a single base polymorphism in the human TNFA gene promoter region in 300 unrelated Korean individuals. The TNFA promoter region which showed a G to A transition at position of -308 was investigated by NcoI restriction fragment length polymorphism analysis. A biallelic polymorphism of TNFA gene showed fragments of 87/20 bp and 107 bp acting as TNFA* 1 allele and TNFA*2 allele, respectively. The allele frequencies of TNFA* 1 and TNFA* 2 were 0.8783 and 0.1217, respectively. The 21.7% of heterozygosity was observed. No association between promoter region phenotypes of TNFA and the first intron phenotypes of TNFB was observed in Korean. Allele frequencies of Koreans were compared with that of Europeans.

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A polymorphic variation in a putative regulation box of the TNFA promoter region

Cited by 263 publications

References 31 publications

Is there a future for TNF promoter polymorphisms?

Is there a future for TNF promoter polymorphisms?

Tumor necrosis factor gene polymorphisms in patients with cirrhosis from chronic hepatitis C virus infection

NcoI restriction fragment length polymorphism at — 308 of the tumor necrosis factor alpha (TNFA) promoter region in korean

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