Tumor necrosis factor α-308 alleles in multiple sclerosis and optic neuritis

He, Bing; Navikas, V.; Lundahl, Joachim; Söderström, M.; Hillert, Jan

doi:10.1016/0165-5728(95)00138-7

Cited by 74 publications

(31 citation statements)

References 24 publications

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“…Poorly defined control groups, possibly due to population stratification resulting from ethnic admixture within the study population, may result in poor matching with a patient group, resulting in the identification of spurious differences in allele frequencies and leading to an initial impression of an association between a gene variant and a given condition. Examples may be the study by Cvetkovic et al 31 in which the carriage of the TNF À308 G allele was found to be higher in patients compared to the control group used, while other Swedish studies, 54,123,124 including two previous studies from the same group 125,126 have reported allele frequencies in healthy controls that are very similar to the patient group in this study. Similarly, Yen et al 30 included a healthy control group that showed very striking differences in allele frequencies to the patient population, but against a background of some confusion as to the true allele frequencies in the Taiwanese population.…”

Section: Disease Associations-conclusionsupporting

confidence: 44%

“…A number of studies have found no HLA-independent association between TNF SNPs or microsatellites and MS, [45][46][47][48][49][50][51] childhood MS, 52 or the severity of MS. 53 While this might appear to indicate that the case for TNF SNPs and MS is closed, the highest number of patients included in any of these studies was 78. 53 Two slightly larger studies 54,55 also found no significant associations between the À308 SNP and MS. This concurred with a larger study of the À308 and À238 SNPs involving 179 patients.…”

Section: Multiple Sclerosismentioning

confidence: 98%

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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: Disease Associations-conclusionsupporting

confidence: 44%

Section: Multiple Sclerosismentioning

confidence: 98%

Is there a future for TNF promoter polymorphisms?

2004

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“…In contrast, 3 studies observed the TNF2 allele to be present less frequently among MS patients than among controls, although the differences were not statistically significant [7,8,9]. Drulovic et al [10] (2003) provided the first report of an association between the TNF2 allele and MS, based on data from a Serbian population.…”

Section: Introductionmentioning

confidence: 96%

“…Therefore, several groups have investigated the relevance of the TNF-α-308 gene polymorphism to MS, but with conflicting results [1,2,3,4,5,6,7,8,9,10]. …”

Section: Introductionmentioning

confidence: 99%

Tumor Necrosis Factor-α-308 Gene Polymorphism in Croatian and Slovenian Multiple Sclerosis Patients

Ristić¹,

Lovrečić²,

Čizmarević³

et al. 2007

Eur Neurol

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Previous findings regarding the role of TNF-α-308 gene polymorphism in multiple sclerosis (MS) are contradictory. The aim of this study was to investigate the possible influence of TNF-α-308 polymorphism on MS susceptibility and the MS disease process in a Croatian and Slovenian population. Genotyping was performed in 338 patients and 460 healthy controls. The TNF2 allele was present in 123 (26.8%) healthy controls vs. 67 (19.9%) MS patients (p = 0.023, odds ratio = 0.68, 95% confidence interval = 0.48–0.95), suggesting that carriage of the TNF2 allele might decrease MS risk. The difference in TNF2 allele carrier frequency between patients and controls was identified in the relapsing-remitting MS group. There was no association between TNF2 allele carrier status and age at disease onset or disease progression. Our results suggest that, in the study populations, the TNF-α-308 polymorphism may play a role in MS susceptibility.

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“…However, contradictory results have also been reported. in one study, the tnf2 allele did not correlate with the increased number of tnf-α expressing cells, indicating that the consistently observed increase of tnf-α production in mS by a variety of assays is better explained by the number of tnf-α expressing cells, than by a functionally relevant promoter polymorphism (48). a study carried out in the netherlands examined tnf-α levels and the distribution of the polymorphisms -308, -238 and -376 in the promoter of the tnf-α gene.…”

Section: Tnf-a Tnf-β and The Tnf Receptor Genesmentioning

confidence: 99%

Genetic polymorphisms associated with the development and clinical course of multiple sclerosis (Review)

Kallaur

Kaimen-Maciel²,

Morimoto³

et al. 2011

Int J Mol Med

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Abstract. multiple sclerosis (mS) is an autoimmune disease characterized by areas of inflammation, demyelination and axonal damage. the etiology of mS is multifactorial with an interaction between genetic, environmental and geographical factors. the objective of this study was to review the physiopathology and the genetic polymorphisms associated with the development and clinical course of mS. Studies carried out in populations worldwide showed that polymorphisms in the genes of the major histocompatibility complex (mHc) class ii and class iii have been associated with susceptibility, resistance and clinical forms of mS. considerable attention has been focused on studies evaluating disease-modifying effects in MS that identified seven genes of probable importance such as the Hla class ii, apoe, il-1ra, il-1β, tnf-α, tnf-β and ccr5 genes. However, the results described in the literature about genetic biomarkers in mS are not consistent in the worldwide population. the detection of a single nucleotide polymorphism involved in the etiology and physiopathology of MS is very difficult and, it is likely that, several genetic polymorphisms are involved, each with a small contribution to the susceptibility or resistance to mS. taken together the results show the need for continued research in genetically heterogeneous populations to identify new biomarkers associated with mS that could be used as prognostic markers or as therapeutic targets to modulate the autoimmune response in mS patients. this information may contribute to a better understanding of the physiopathology and treatment of mS, with the possibility of developing different therapeutic strategies according to the genetic profile of each individual.

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Tumor necrosis factor α-308 alleles in multiple sclerosis and optic neuritis

Cited by 74 publications

References 24 publications

Is there a future for TNF promoter polymorphisms?

Is there a future for TNF promoter polymorphisms?

Tumor Necrosis Factor-α-308 Gene Polymorphism in Croatian and Slovenian Multiple Sclerosis Patients

Genetic polymorphisms associated with the development and clinical course of multiple sclerosis (Review)

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