MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac

Zou, Jing; Zhao, Zikai; Zhang, Guoping; Zhang, Qing; Pyykkö, Ilmari

doi:10.1016/j.joto.2022.03.001

Cited by 9 publications

(6 citation statements)

References 34 publications

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“…The detailed mechanism of NET formation remains unclear but it may be caused by chromosomal DNA release following histone depolym- www.nature.com/scientificreports/ erization involving myeloperoxidase, neutrophil elastase, and peptidylarginine deiminase 4 39 . Interestingly, one of the MD patients in the current study carried multiple genetic variants associated with both autoimmune and autoinflammatory reactions and demonstrated vascular congestion over the ES, indicating vasculitis 15 .…”

Section: Existence Of Molecular Machinery In the Inner Ear And Es To ...mentioning

confidence: 68%

“…A link between thyroid autoimmunity and MD was also proposed 8,9 . In addition to potential autoimmunity, autoinflammatory mechanisms may also be involved in the development of MD [9][10][11][12][13][14][15] . However, the detailed mechanism of eliciting either autoimmunity or autoinflammation involved in MD has not yet been clarified.…”

Section: Esmentioning

confidence: 99%

“…In addition, NF-κB and TNFα signaling are also activated in certain autoinflammatory diseases 19 . Mutations in MEFV, the gene encoding pyrin, which acts as an intra-nuclear regulator of transcription of the peptides involved in inflammation, mainly in the innate immune system and is an upstream signal of IL-1, have been defined as variants specific for autoinflammatory diseases and have been detected in MD 15,19,22 . However, many immunological diseases are mixed-pattern conditions that comprise elements of both autoimmunity and autoinflammation 19,23 .…”

Section: Esmentioning

confidence: 99%

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Elevated G-CSF, IL8, and HGF in patients with definite Meniere’s disease may indicate the role of NET formation in triggering autoimmunity and autoinflammation

Zou

Zhao

Song

et al. 2022

Sci Rep

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The etiology and mechanism causing Meniere’s disease (MD) are not understood. The present study investigated the possible molecular mechanism of autoimmunity and autoinflammation associated with MD. Thirty-eight patients with definite MD and 39 normal volunteers were recruited, and 48 human cytokines/chemokines were quantified. In patients with MD pure tone audiograms, tympanograms and standard blood tests were performed. The mean hearing loss in the worse ear was 44.1 dB nHL. Compared to the referents, the concentrations of TNFα, IL1α, IL8, CTACK, MIP1α, MIP1β, G-CSF, and HGF in the sera of patients with MD were significantly elevated, while those of TRAIL and PDGFBB were significantly decreased. The area under the receiver operating characteristic curve (AUC) showed that G-CSF, MIP1α, and IL8 were above 0.8 and could be used to diagnose MD (p < 0.01), and the AUCs of CTACK and HGF were above 0.7 and acceptable to discriminate the MD group from the control group (p < 0.01). The revised AUCs (1 − AUC) of TRAIL and PDGFBB were above 0.7 and could also be used in the diagnosis of MD (p < 0.01). The linear regression showed significant correlations between MIP1α and GCSF, between IL2Rα and GCSF, between IL8 and HGF, between MIP1α and IL8, and between SCF and CTACK; there was a marginal linear association between IP10 and MIP1α. Linear regression also showed that there were significant age-related correlations of CTACK and MIG expression in the MD group (p < 0.01, ANOVA) but not in the control group. We hypothesize that G-CSF, IL8, and HGF, which are involved in the development of neutrophil extracellular traps (NETs) and through various mechanisms influence the functions of macrophages, lymphocytes, and dendritic cells, among others, are key players in the development of EH and MD and could be useful in elucidating the pathophysiological mechanisms leading to MD. Biomarkers identified in the present study may suggest that both autoimmune and autoinflammatory mechanisms are involved in MD. In the future, it will be valuable to develop a cost-effective method to detect G-CSF, IL8, HGF, CTACK, MIP1α, TRAIL, and PDGFBB in the serum of patient that have diagnostic relevance.

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Section: Existence Of Molecular Machinery In the Inner Ear And Es To ...mentioning

confidence: 68%

Section: Esmentioning

confidence: 99%

Section: Esmentioning

confidence: 99%

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Elevated G-CSF, IL8, and HGF in patients with definite Meniere’s disease may indicate the role of NET formation in triggering autoimmunity and autoinflammation

Zou

Zhao

Song

et al. 2022

Sci Rep

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“…Zou reported a case of Meniere's disease with a signi cant in ammatory response, in which serum IL 7 levels were signi cantly increased by , and there is no report on hearing loss. 21 Our study has several limitations: 1. In the cytokine GWAS data as the exposure data, The screening condition I used was 5e-6, Data obtained after LD linkage disequilibrium, While the sensorineural deafness of the Finnish database we used 5e-5, The resulting data, the data data, Coordinated and merged for subsequent MR analysis, In the sensorineural deafness as the exposure data, The screening condition I used was 5e-8, Data obtained after LD linkage disequilibrium, While the in ammatory factor screening condition we used was 5e-5, The resulting data were coordinated and merged for subsequent MR analysis; 2 The population in our database are all from the European populations, The stability of the causal relationship between different races is not demonstrated; 3 Due to the complex related confounding factors of cytokines, such as the cytokine network system, which may affect the causal relationship between cytokines and sensorineural hearing loss, We need to apply more evidence-based data to demonstrate it in the future.…”

Section: Discussionmentioning

confidence: 95%

Exploring the causal relationship between inflatmmatory factors and sensorineural hearing loss:a bidirectional Mendelian randomization study

Qiu,

lin,

et al. 2024

Preprint

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Objective: To investigated the causal link between inflammatory variables and sensorineural hearing loss. Study Design: a bidirectional Mendelian randomization study. Set: FinnGen study and the public genome-wide association study (GWAS). Methods: Based on the public genome-wide association study and the FinnGen study, we conducted two Mendelian randomization studies using Inverse Variance Weighted (IVW) as the main method of Mendelian randomization(MR) analysis, using weighted median (MR Egger), Cochrane’ Q, IVW_radial and leave-one-out (LOO) were used for pleiotropy and heterogeneity. Also, We use the MR-PRESSO to evaluate horizontal pleiotropy and test outliers. Results: This study used the IVW method to reveal a correlation between elevated levels of VEGF, SDF1a, IL13, IL10, and IL7 and an increased risk of sensorineural hearing loss. The IVW method (Estimate ods ratio [OR]=1.04, 95% Confidence Interval [CI]: 0.07-1.04, p=0.04, OR=1.10, 95% [CI]: 1.02-1.18, p=0.01, OR=1.04, 95% [CI]: 1.01-1.06, p=0.01, OR=1.06, 95% [CI]: 1.02-1.11, p=0.01, OR=1.05, 95% [CI]: 1.02-1.11 1-1.08, p=0.00), Reverse MR analysis showed that sensorineural hearing loss did not significantly affect the expression of these 41 inflammatory factors. No significant heterogeneity or horizontal pleiotropy was observed in the instrumental variables. Conclusion: This study reveals a positive correlation between high levels of VEGF, SDF1a, IL13, IL10 and IL7 and sensorineural hearing loss, providing new targets for prediction, treatment and prevention of sensorineural hearing loss.

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“…Many theories regarding the pathophysiology and etiology of Meniere's disease exist, which point to a combination of genetic and environmental roles in the development and progression of the disease [10 ▪ ,11 ▪ ]. One theory postulates there may be a viral etiology of Meniere's disease, with evidence implicating acute or persistent viral infections such as herpes simplex virus (HSV), cytomegalovirus (CMV), Epstein Barr virus (EBV), influenza virus, adenovirus (AV), Coxsackie virus B, measles and Varicella Zoster virus (VZV) [12–16].…”

Section: Introductionmentioning

confidence: 99%

Infectious causes and mimickers of meniere's disease

Kurtzman

Sioshansi

2023

Current Opinion in Otolaryngology &Amp; Head &Amp; Neck Surgery

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Purpose of review To review the evidence of a possible viral etiology of Meniere's disease, the role of antiviral therapy, as well as other infectious disease processes that may mimic Meniere's disease. Better understanding of the etiology of Meniere's disease and the role of various infectious disease processes may allow for more effective diagnosis and management. Recent findings There is evidence that viral infections – to Herpes simplex virus, cytomegalovirus, Epstein Barr virus, influenza, adenovirus, Coxsackie virus B, and Varicella Zoster Virus – may be involved in the development of Meniere's disease, however the evidence is inconsistent and the underlying mechanism remains theoretical. Nevertheless, antiviral therapy may be effective for a subset of patients with Meniere's disease. Lastly, other infectious diseases including Lyme disease and syphilis can present with symptoms similar to Meniere's disease. It is important to discern these from Meniere's disease to determine the appropriate treatment. Summary There is a paucity of high-quality evidence to support a viral etiology of Meniere's disease, and the current evidence appears circumstantial and inconsistent. Additional research is necessary to establish the mechanism and causative pathogens. Antiviral therapy may provide therapeutic benefit for a subset of patients with Meniere's disease. Furthermore, clinicians should be aware of other infectious mimics of Meniere's disease and include them in the differential diagnosis of patients presenting with Meniere's-like symptoms. Research on this subject continues to evolve, and data from these studies represent a growing repository of evidence that can be used to guide clinical decision-making.

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MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac

Cited by 9 publications

References 34 publications

Elevated G-CSF, IL8, and HGF in patients with definite Meniere’s disease may indicate the role of NET formation in triggering autoimmunity and autoinflammation

Elevated G-CSF, IL8, and HGF in patients with definite Meniere’s disease may indicate the role of NET formation in triggering autoimmunity and autoinflammation

Exploring the causal relationship between inflatmmatory factors and sensorineural hearing loss:a bidirectional Mendelian randomization study

Infectious causes and mimickers of meniere's disease

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