Polymorphisms in proinflammatory cytokines genes and susceptibility to Multiple Sclerosis

Bakr, Noha M.; Hashim, Noha A.; El-Baz, Hatim A.; Khalaf, Eman M.; Elharoun, Ahmed S

doi:10.1016/j.msard.2020.102654

Cited by 8 publications

(2 citation statements)

References 42 publications

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“…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). The gene is also associated to SARS-CoV2 vaccine response.…”

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

confidence: 67%

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: 67%

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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“…GWAS also uncovered that up to 10.5% of the genetic variance underlying MS risk is linked to human leukocyte antigen (HLA) class II alleles among all ethnic groups studied [29]. However, studies have also revealed that non-HLA loci and their SNPs may influence susceptibility to MS, especially those involved in controlling components involved in innate and adaptive immune responses; for instance, cytokines and TLRs [12,16,30,31].…”

Section: Discussionmentioning

confidence: 99%

Toll-like receptor 10 gene polymorphism and risk of multiple sclerosis among Iraqi patients

Atiyah

Fadhil

Ad’hiah

2022

Egypt J Med Hum Genet

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Background Toll-like receptors (TLRs) are a family of 10 pattern recognition receptors (TLR1–TLR10) involved in the regulation of inflammatory and immune responses besides their role in the pathogenesis of autoimmune diseases including multiple sclerosis (MS). TLR10 is the least studied TLR in MS, and data for single nucleotide polymorphisms (SNPs) of the TLR10 gene are limited. Therefore, a case–control study was performed on 85 patients with relapsing–remitting MS and 86 healthy controls (HC) to explore SNPs in the promoter region of TLR10 gene. A 927-bp region was amplified, and Sanger sequencing identified 10 SNPs with a minor allele frequency ≥ 10% (rs200395112 T/A, rs201802754 A/T, rs201228097 T/A, rs113588825 G/A, rs10004195 T/A, rs10034903 C/G, rs10012016 G/A/C, rs10012017 G/T, rs33994884 T/Deletion [Del] and rs28393318 A/G). Results Del allele and T/Del genotype of rs33994884, as well as AG genotype of rs28393318, showed significantly lower frequencies in MS patients compared to HC. Allele and genotype frequencies of the 10 SNPs showed no significant differences between MS patients classified according to the Expanded Disability Status Scale. Haplotype analysis revealed that haplotype A-T-A-G-A-G-G-T-A showed a significantly increased frequency in MS patients compared to HC (odds ratio [OR] = 9.70; 95% confidence interval [CI] = 1.28–73.31; corrected probability [pc] = 0.03), while frequency of A-T-A-G-T-C-A-T-G haplotype was significantly decreased (OR = 0.10; 95% CI = 0.01–0.85; pc = 0.05). Conclusions The study indicated that two SNPs may influence susceptibility to MS (rs33994884 and rs28393318), but haplotype analysis of TLR10 gene SNPs was more informative.

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Interleukin-16 genetic polymorphisms in Guangxi Chinese with hepatitis B virus-related liver cirrhosis

et al. 2023

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Polymorphisms in proinflammatory cytokines genes and susceptibility to Multiple Sclerosis

Cited by 8 publications

References 42 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

Toll-like receptor 10 gene polymorphism and risk of multiple sclerosis among Iraqi patients

Interleukin-16 genetic polymorphisms in Guangxi Chinese with hepatitis B virus-related liver cirrhosis

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