Allelic Variation in the TNF‐β Gene Does Not Explain the Low TNF‐β Response in Patients With Primary Biliary Cirrhosis

Messer, Gerald; Spengler, Ulrich; Jung, M; Honold, G.; Eisenburg, J; Scholz, Siegfried; Albert, E. D.; Pape, Gerd R.; Riethmüller, Gert; Weiß, Elisabeth H.

doi:10.1111/j.1365-3083.1991.tb01598.x

Cited by 30 publications

(9 citation statements)

References 36 publications

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“…All six SNPs identified in the IL-12 promoter were novel and the remaining three SNPs in the promoters of CTLA4, IL-10 and IL-6 had been previously identified [36,37]. A total of four intronic SNPs were detected in this study; one novel non-coding SNP was identified in intron 1 of IL-1· and three previously identified SNPs in intron 1 of LT· intron 2 of IL2i and intron 5 of Fas respectively [33,38,39].…”

Section: Noncoding Region Polymorphismsmentioning

confidence: 70%

Population Frequencies of Single Nucleotide Polymorphisms (SNPs) in Immuno-Modulatory Genes

et al. 2003

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Inherited polymorphisms in immuno-modulatory genes may contribute to variations in immune function and genetic susceptibility for complex diseases, including cancer. We report results from a comprehensive study to discover novel single nucleotide polymorphisms (SNPs) and to estimate allelic frequency for both novel and known coding and regulatory region SNPs in genes encoding proteins that have been implicated in the immune response to tumors. We identified 12 novel nucleotide substitution variants and one deletion variant in 17 genes analyzed (TGFβR, β2M, IFNγ, TNFα, TNFαR, LTα, IL-6, IL-12, IL-2, IL-1α, IL-1β, IL-1RN, IL-10, CTLA4, CD40L, Fas and FasL). We determined the frequency of these novel polymorphisms, as well as 17 previously identified polymorphisms, in a control sample of 158 individuals, approximately half of which were Caucasian (n = 74) and half of which were African American (n = 84). Significant differences in allele frequencies were observed between the two racial groups for 13/17 genes tested. These allelic variations maybe associated with alterations in immune function and thus susceptibility to a number of complex disease states such as cancer.

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Section: Noncoding Region Polymorphismsmentioning

confidence: 70%

Population Frequencies of Single Nucleotide Polymorphisms (SNPs) in Immuno-Modulatory Genes

et al. 2003

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“…A highly reliable approach, based on PCR-RFLP with amplification-created restriction sites (20), was developed to detect the polymorphism at positions -308 and -238 of the TNFa gene. An additional polymorphism in the first intron of the TNFP gene has been reported (19), with the two polymorphic alleles variably associated with high and low levels of TNFa secretion, depending on the population under investigation (12,21,22). Because of the possible functional significance of these polymorphisms, we investigated its association with the susceptibility to, and the disease profile of rheumatoid arthritis.…”

mentioning

confidence: 99%

Polymorphism at the TNF loci in rheumatoid arthritis

et al. 1997

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The purpose of this work was to analyze the possible influence of TNF loci polymorphism on the susceptibility and/or the disease profile of rheumatoid arthritis (RA). Tumor necrosis factor (alpha and beta) genotypes were determined in 60 patients with RA and 102 healthy subjects by a method based on PCR-RFLP with amplification-created restriction sites. The results obtained in the present study showed that there is not a significant association of either TNF alpha promoter variation (at positions -308 and -238) or TNF beta polymorphism with susceptibility to RA. However, a significant difference in the mean age at disease onset was found between -238 TNF alpha genotypes. In addition, a difference in the presence of nodular disease was observed between -308 TNF alpha genotype. The results of this study suggests that the TNF alpha gene may play a role in the disease profile of rheumatoid arthritis.

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“…Moreover, the homotrimeric form of lymphotoxin-α binds to the TNFα receptor [110]. Two of several variants identified in LTA, the IVS1+90A>G and Thr60Asn, are in tight LD and the intronic A-allele reduces LTA expression and increases TNF expression in vitro [111,112]. Of 65,671 SNP markers examined in a Japanese population the IVS1+90A>G and Thr60Asn were associated with myocardial infarction [113]; an observation that was subsequently replicated [114].…”

Section: Do Genes Encoding Proinflamma-tory Cytokines Play a Part In mentioning

confidence: 89%

Genetics of Common Forms of Glycaemia with Pathological Impact on Vascular Biology: Are We on the Right Track?

Andersen

Hansen²,

Pedersen³

2005

CMM

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The common forms of abnormal glucose regulation including type 2 diabetes and impaired glucose tolerance with pathological implications on vascular biology have a complex aetiology involving multiple cross-talks between genetic influences and important environmental modifying factors. Due to complexity of the genetics and the clinical heterogeneity of these disorders it has proven difficult to apply the same methodological approaches that have recently given insights into the molecular genetics of several single-gene disorders of glucose metabolism. This review gives some reflections on the challenges posed by the current hypotheses about the genetics of the widespread forms of abnormal glucose regulation as well as on the strengths and limitations of the methodological approaches applied to unravel the genetic components of common disorders. Also, we review recent progress in relation to a model for the pathogenesis of the various stages of abnormal glucose regulation based on the concepts of thrifty genes of metabolism and pro-inflammation and genes responsible for the appearance of impaired pancreatic beta-cell function and insulin signalling under the pressure of a westernized environment.

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Allelic Variation in the TNF‐β Gene Does Not Explain the Low TNF‐β Response in Patients With Primary Biliary Cirrhosis

Cited by 30 publications

References 36 publications

Population Frequencies of Single Nucleotide Polymorphisms (SNPs) in Immuno-Modulatory Genes

Population Frequencies of Single Nucleotide Polymorphisms (SNPs) in Immuno-Modulatory Genes

Polymorphism at the TNF loci in rheumatoid arthritis

Genetics of Common Forms of Glycaemia with Pathological Impact on Vascular Biology: Are We on the Right Track?

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