Association of polymorphism -308G/A in tumor necrosis factor-alpha gene (<i>TNF-α</i>) and TNF-α serum levels in patients with relapsing-remitting multiple sclerosis

Grigorova, Antonia; Trenova, Anastasiya G.; Stanilova, Spaska

doi:10.1080/01616412.2020.1853987

Cited by 9 publications

(3 citation statements)

References 30 publications

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“…Normal TNF expression is necessary for myelin maintenance and disfunction in its signaling may be a risk factor for MS (Probert, 2015). The present variant has been described to elevate both TNF levels and risk for MS in women (Grigorova et al, 2021). In another study, although MS risk was not seen, the presence of this allele was associated to disease severity, with higher EDSS values (Bakr et al, 2020).…”

Section: Genetic Variants Show Increased Susceptibility To Aggressive...mentioning

confidence: 62%

A case study: ADEM-like lesions as a first clinical event in highly active multiple sclerosis

Costa,

Raposo-Vedovi,

Fernandes

et al. 2024

Preprint

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Introduction: Multiple sclerosis is an autoimmune cause of neurological disability. Among its risk factors, it may be related to viral triggers. The advent of COVID-19 raises concern as a novel cause of CNS autoimmunity, which may be a response to virus antigens. In this context, we present a case of highly active multiple sclerosis onset two weeks after SARS-CoV2 mRNA vaccination. Case description: A young woman had lower limb paresthesia which quickly evolved into tetraplegia. She had oligoclonal bands on CSF, with cervical myelitis and a brain MRI suggestive of acute disseminated encephalomyelitis. The highest EDSS observed was 9.5 and sustained remission was only achieved after natalizumab treatment was initiated, reaching EDSS 1.5. Discussion: Case evaluation involved the use of plasma biomarkers. While neurodegeneration biomarkers NfL, GFAP, Tau and UCHL1 decreased, the subject appeared to have sustained inflammatory activity with increased CRP, CD-14, TLR4, IL-1β and IL-17A even after remission. Neuroprotective cytokine TGFβ content was also lower. The existence of blackhole-like lesions at first MRI evaluation and individual risk factors in the form of TNF (rs1800629), SOD2 (rs4880) and FCGR2A (rs1801274) gene variants suggest previous subclinical disease, being impossible to define vaccination as a causative factor. Furthermore, review of previously reported cases of MS onset after a SARS-CoV2 vaccine showed a total of 28 cases, with a mean EDSS of 2.44 at the time of worst disability and highly heterogenous exposition intervals. The highest reported EDSS was 3.5. At least 17 subjects achieved remission. Conclusions: Atypical presentations of MS at onset present a challenge which may benefit from precision assays. SARS-CoV2 vaccination appears as a confounder in this case, its relationship with MS activation seeming to be a rare event with low morbidity. The authors understand this case study illustrates how, in an epidemiological standpoint, vaccination benefits still outweigh the risks perceived.

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Section: Genetic Variants Show Increased Susceptibility To Aggressive...mentioning

confidence: 62%

A case study: ADEM-like lesions as a first clinical event in highly active multiple sclerosis

Costa,

Raposo-Vedovi,

Fernandes

et al. 2024

Preprint

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“…There is limited data about the synchronization of such promoters being coordinated, but it is clear that they can significantly contribute to differences between individuals within one species. Examples show that promoter polymorphism and methylation are associated with diseases, such as PARK2 and colorectal cancer [79] or the association of TNFa promoter polymorphisms with multiple sclerosis [80]. Similarly, the hTERT promoter forms three parallel G-quadruplexes [81] and its mutation and methylation influence human tumorigenesis [82,83].…”

Section: Evolutionary Pressure For Promoter Diversitymentioning

confidence: 99%

Evolution of Diverse Strategies for Promoter Regulation

2021

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“…GWAS can perform population-level statistical analysis of genotype and phenotype, so as to helping us identify genetic loci related to phenotypic changes. Up to now, numerous SNPs associated with levels of tumor makers among different populations have been reported [ 13 , 17 , 19 – 21 ]. SNPs significantly associated with levels of tumor markers in specific populations can be identified through GWAS.…”

Section: Introductionmentioning

confidence: 99%

Genome-wide association study of serum tumor markers in Southern Chinese Han population

Bai

Wei

et al. 2022

BMC Cancer

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Background Serum indicators AFP, CA50, CA125, CA153, CA19-9, CEA, f-PSA, SCC-Ag have been confirmed as tumor markers (TMs). We conducted a genome-wide association study on 8 tumor markers of our 427 Han population in southern China, in order to identify genetic loci that are significantly associated with the level of 8 tumor markers. Methods We use Gene Titan multi-channel instrument and Axiom Analysis Suite 6.0 software for genotyping. We used IMPUTE2 software for imputation, and 1000 Genomes Project (Phase 3) was used as haplotype reference. After necessary quality control and statistical analysis, genetic loci genome-wide associated with TMs (p < 5E-8) will be identified. Finally, we selected Top SNPs (p < 5E-7) from the GWAS results for replication test. We used SPSS software to draw the distribution box plots of serum TMs under different genotypes of significant loci. Results The results showed that there were only MUC1 (mucin 1)-rs4072037 significantly genome-wide associated with CA153 (p = 1.28E-18). However, we found that a total of 30 genetic loci have a suggestively significant genome-wide association with the level of 8 serum tumor markers (p < 5E-6). Then 3 Top SNPs (p < 5E-7) were selected for replication verification. The results showed that MUC1-rs4072037 was still significantly associated with CA153 in another population (p = 3.73E-08). Comparing with the TT genotype of rs4072037, the CA153 level was higher under CC or CT genotype of rs4072037. Conclusion MUC1-rs4072037 is significantly genome-wide associated with CA153 level. There are 30 genetic loci suggestively genome-wide associated with level of tumor markers among the Han population from Southern China.

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Association of polymorphism -308G/A in tumor necrosis factor-alpha gene (TNF-α) and TNF-α serum levels in patients with relapsing-remitting multiple sclerosis

Cited by 9 publications

References 30 publications

A case study: ADEM-like lesions as a first clinical event in highly active multiple sclerosis

A case study: ADEM-like lesions as a first clinical event in highly active multiple sclerosis

Evolution of Diverse Strategies for Promoter Regulation

Genome-wide association study of serum tumor markers in Southern Chinese Han population

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