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BioMed Research International 2022Autoimmune thyroid diseases (AITDs), representative autoimmune diseases, mainly consist of Graves' disease (GD) and Hashimoto's thyroiditis (HT). In this passage, we...
BACKGROUND
Autoimmune thyroid diseases (AITDs), representative autoimmune diseases, mainly consist of Graves' disease (GD) and Hashimoto's thyroiditis (HT). In this passage, we investigated the association between vascular endothelial growth factor C (VEGFC) gene polymorphisms and AITDs.
METHODS
A total of 1084 patients with AITDs and 794 healthy controls were tested for VEGFC gene genotypes in four single nucleotide polymorphisms (SNPs) by high-throughput sequencing, and the correlation between VEGFC gene polymorphisms and AITDs was statistically analyzed.
RESULTS
The genotype distribution of rs3775194 was statistically associated with AITDs compared with the control group. Rs3775194 was associated with AITDs under the overdominant model, both before and after adjusting for confounding factors, while the other three SNPs were not associated with GD and HT. There was a prominent discrepancy between male healthy controls and male AITD patients under overdominant model in rs3775194 and the recessive model in rs11947611. The genotype distribution of rs3775194 was statistically related to male HT.
CONCLUSION
These results reveal the correlation between VEGFC mutation and AITD susceptibility.
Topics: Alleles; Case-Control Studies; Gene Frequency; Genetic Predisposition to Disease; Genotype; Graves Disease; Hashimoto Disease; Humans; Male; Polymorphism, Single Nucleotide; Thyroiditis, Autoimmune; Vascular Endothelial Growth Factor C
PubMed: 35865663
DOI: 10.1155/2022/2603519 -
Frontiers in Endocrinology 2023Hashimoto's thyroiditis (HT) is a chronic autoimmune disease that poses a risk factor for papillary thyroid carcinoma (PTC). The present study aimed to identify the key...
BACKGROUND
Hashimoto's thyroiditis (HT) is a chronic autoimmune disease that poses a risk factor for papillary thyroid carcinoma (PTC). The present study aimed to identify the key genes shared by HT and PTC for advancing the current understanding of their shared pathogenesis and molecular mechanisms.
METHODS
HT- and PTC-related datasets (GSE138198 and GSE33630, respectively) were retrieved from the Gene Expression Omnibus (GEO) database. Genes significantly related to the PTC phenotype were identified using weighted gene co-expression network analysis (WGCNA). Differentially expressed genes (DEGs) were identified between PTC and healthy samples from GSE33630, and between HT and normal samples from GSE138198. Subsequently, functional enrichment analysis was performed using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG). Transcription factors and miRNAs regulating the common genes in PTC and HT were forecasted using the Harmonizome and miRWalk databases, respectively, and drugs targeting these genes were investigated using the Drug-Gene Interaction Database (DGIdb). The key genes in both GSE138198 and GSE33630 were further identified Receiver Operating Characteristic (ROC) analysis. The expression of key genes was verified in external validation set and clinical samples using quantitative real-time polymerase chain reaction (qRT-PCR) and immunohistochemistry (IHC).
RESULTS
In total, 690 and 1945 DEGs were associated with PTC and HT, respectively; of these, 56 were shared and exhibited excellent predictive accuracy in the GSE138198 and GSE33630 cohorts. Notably, four genes, Alcohol Dehydrogenase 1B (), Active BCR-related (), alpha-1 antitrypsin (), and lysophosphatidic acid receptor 5 () were recognized as key genes shared by HT and PTC. Subsequently, was identified as a common transcription factor regulating , and expression. These findings were confirmed using qRT-PCR and immunohistochemical analysis.
CONCLUSION
Four (, and ) out of 56 common genes exhibited diagnostic potential in HT and PTC. Notably, this study, for the first time, defined the close relationship between ABR and HT/PTC progression. Overall, this study provides a basis for understanding the shared pathogenesis and underlying molecular mechanisms of HT and PTC, which might help improve patient diagnosis and prognosis.
Topics: Humans; Thyroid Cancer, Papillary; Thyroid Neoplasms; Hashimoto Disease; Prognosis; Computational Biology; Receptors, Lysophosphatidic Acid
PubMed: 37324256
DOI: 10.3389/fendo.2023.1140094 -
Roczniki Panstwowego Zakladu Higieny 2021The authors of recently published scientific papers are focusing increasingly often on the effect of vitamin D on immune processes. In the case of deficiencies of this... (Review)
Review
The authors of recently published scientific papers are focusing increasingly often on the effect of vitamin D on immune processes. In the case of deficiencies of this vitamin, an imbalance in the immune system is observed, which is associated with the intensification of the inflammatory reaction in the body and the increased possibility of an autoimmune reaction. Therefore, due to the growing interest of scientists in the relationship between the effects of vitamin D and the development of autoimmune diseases, this paper considers the use of Vitamin D in autoimmune therapies. However, the mechanism of vitamin D on individual autoimmune diseases has not been elucidated so far, therefore there is a need for further research. The importance of maintaining normal plasma vitamin D levels to reduce the risk of developing autoimmune diseases has been demonstrated by the authors of other studies. They showed that vitamin D levels influenced the course, severity of symptoms and frequency of relapses of autoimmune thyroid disease, inflammatory bowel disease, and rheumatoid arthritis.
Topics: Autoimmune Diseases; Hashimoto Disease; Humans; Thyroid Diseases; Thyroiditis, Autoimmune; Vitamin D; Vitamin D Deficiency; Vitamins
PubMed: 34114758
DOI: 10.32394/rpzh.2021.0156 -
Frontiers in Immunology 2023In recent years, there has been a significant increase in the concomitant incidence of Hashimoto's thyroiditis (HT) and polycystic ovary syndrome (PCOS), both in terms... (Review)
Review
In recent years, there has been a significant increase in the concomitant incidence of Hashimoto's thyroiditis (HT) and polycystic ovary syndrome (PCOS), both in terms of incidence, etiology, and clinical consequences. PCOS patients suffering from autoimmune thyroid diseases show insulin resistance, impaired glucose tolerance, weight gain, and metabolic and reproductive complications. Studies have shown that chronic stress and its consequence, i.e. oxidative stress, play an important role in the pathomechanism of both disorders. It has also been shown that long-term exposure to stress triggers biological mechanisms, in particular related to the regulation of the inflammatory cascade, which plays a key role in autoimmune diseases. The paper is a review of the literature on the role of chronic stress, oxidative stress, and immune processes in the pathogenesis of HT and PCOS. In addition, the review is a source of knowledge about the treatment of these diseases, and in particular the use of antioxidants in therapeutic management.
Topics: Female; Humans; Polycystic Ovary Syndrome; Immune System Diseases; Oxidative Stress; Autoimmune Diseases; Hashimoto Disease
PubMed: 37588599
DOI: 10.3389/fimmu.2023.1211231 -
Frontiers in Immunology 2023Accumulating evidence suggests that the gut microbiota and its metabolites may be involved in autoimmune hypothyroidism. However, the causal association between gut...
BACKGROUND
Accumulating evidence suggests that the gut microbiota and its metabolites may be involved in autoimmune hypothyroidism. However, the causal association between gut microbiota, metabolites and autoimmune hypothyroidism remains to be determined.
METHODS
Instrumental variables were screened from the GWAS datasets of 211 gut microbiota taxonomic groups, gut microbiota-derived metabolites, and autoimmune hypothyroidism. Univariable Mendelian randomization (MR) and multivariable Mendelian randomization (MVMR) were used to analyse the potential causal relationship between autoimmune hypothyroidism, these metabolites, or these microbiota. During the MR analysis, we alternated multiple MR methods with different model assumptions to assess the consistency and robustness of the findings: inverse variance weighted (IVW), weighted median, MR pleiotropy residual sum and outlier (MRPRESSO) and MR-Egger methods. Reverse MR analysis was performed to assess the possibility of reverse causality. Finally, enrichment analyses were used to investigate potential biofunctions.
RESULTS
The IVW results of univariable MR showed that the phyla Actinobacteria, genus DefluviitaleaceaeUCG011, genus Eggerthella, family Defluviitaleaceae, genus Subdoligranulum, genus RuminococcaceaeUCG011, and genus Intestinimonas were associated with autoimmune hypothyroidism. After FDR adjustment, the absence of a causal relationship between gut microbiota and autoimmune hypothyroidism ( > 0.05) suggested a possible marginal association. The results on gut metabolites showed that N-(3-furoyl)glycine, pipecolate, phenylalanine, allantoin, indololactate and alanine were associated with autoimmune hypothyroidism. After FDR correction, only indololactate was associated with hypothyroidism (OR=1.592; 95% CI, 1.228-2.065; = 0.036). Family Defluviitaleaceae and genus DefluviitaleaceaeUCG011 were suggestively significant in the MVMR. The results of reverse MR analysis showed no reverse causality between autoimmune hypothyroidism and the identified gut microbiota. Enrichment analysis revealed that several key regulatory pathways were significantly enriched.
CONCLUSION
This study supported that there were beneficial or detrimental causal effects of gut microbiota and its metabolites on autoimmune hypothyroidism risk, which provides more theoretical support for mechanistic research on the "thyroid-gut" axis.
Topics: Humans; Gastrointestinal Microbiome; Mendelian Randomization Analysis; Hashimoto Disease; Hypothyroidism; Thyroiditis, Autoimmune
PubMed: 38239342
DOI: 10.3389/fimmu.2023.1213159 -
Indian Journal of Pathology &... May 2022Autoimmune encephalitis is a group of non-infectious immune-mediated inflammatory disorders manifesting with epilepsy and encephalitis syndromes that are associated with... (Review)
Review
Autoimmune encephalitis is a group of non-infectious immune-mediated inflammatory disorders manifesting with epilepsy and encephalitis syndromes that are associated with autoantibodies in the serum and/or cerebrospinal fluid (CSF). Pathogenic autoantibodies have been discovered against intracellular onconeural antigens, surface neuronal, or synaptic antigens with distinctive pathogenesis that underlie differences in response to immunotherapy. The onconeural antigens incite cytotoxic T-cell-mediated neuronal destruction, whereas surface antigens trigger direct damage by autoantibodies via complement mediated pathways, and hence respond well to immunomodulatory therapy, in contrast to poor response in the former. Neuroimaging, electroencephalogram, and CSF findings being non-specific, detection of autoantibodies is essential for a confirmatory diagnosis. Detection methods available include tissue-based assay, cell-based assays, immunoblot, cell culture, flow cytometry, and enzyme-linked immunosorbent assays. In this review, we discuss the various testing modalities available for onconeural and cell surface antibodies, their sensitivity and specificity and the emerging role of the pathologist in the diagnosis of autoimmune encephalitis. Early diagnosis is crucial for instituting treatment and preventing morbidity and mortality.
Topics: Autoantibodies; Encephalitis; Hashimoto Disease; Humans; Pathologists
PubMed: 35562150
DOI: 10.4103/ijpm.ijpm_41_22 -
Frontiers in Endocrinology 2023Previous studies have suggested a potential association between Autoimmune thyroid disease Thyroid nodules and Sleep Traits, but the evidence is limited and...
BACKGROUND
Previous studies have suggested a potential association between Autoimmune thyroid disease Thyroid nodules and Sleep Traits, but the evidence is limited and controversial, and the exact causal relationship remains uncertain.
OBJECTIVE
Therefore, we employed a MR analysis to investigate the causal relationship between Autoimmune thyroid disease, Thyroid nodules and Sleep Traits.
METHODS
To explore the interplay between Autoimmune thyroid disease Thyroid nodules and Sleep Traits, we employed MR studies utilizing summary statistics derived from GWAS in individuals of European ancestry. To ensure robustness, multiple techniques were employed to assess the stability of the causal effect, including random-effect inverse variance weighted, weighted median, MR-Egger regression, and MR-PRESSO. Heterogeneity was evaluated using Cochran's Q value. Additionally, we investigated the presence of horizontal pleiotropy through MR-Egger regression and MR-PRESSO.
RESULTS
The IVW method indicates a significant causal relationship between "Getting up" and autoimmune hypothyroidism, as revealed by the IVW method (OR: 0.59, 95% CI: 0.45 to 0.78, P-value = 1.99e-4). Additionally, there might be a potential correlation between sleep duration and autoimmune hypothyroidism (OR: 0.76, 95% CI: 0.60 to 0.79, P-value = 0.024). Moreover, the observed potential positive link between daytime nap and thyroid nodules (OR: 1.66, 95% CI: 1.07 to 2.58, P-value = 0.023) is subject to caution, as subsequent MR PRESSO testing reveals the presence of horizontal pleiotropy, raising concerns about the reliability of the findings. The findings suggested a potential inverse association between Autoimmune hypothyroidism and Getting up (OR: 0.99, 95% CI: 0.98 to 1.00, P-value = 6.66e-3).As the results of MR-Egger method(OR: 1.00, 95% CI: 0.98 to 1.02, P-value = 0.742) exhibited an opposing trend to that observed with the IVW method and the results did not reach significance after P-value correction.
CONCLUSION
The results of our study reveal a notable cause-and-effect relationship between Getting up and Autoimmune hypothyroidism, indicating its potential role as a protective factor against this condition. However, no causal connection was observed between sleep traits and Graves' disease or Thyroid nodules.
Topics: Humans; Thyroid Nodule; Mendelian Randomization Analysis; Reproducibility of Results; Sleep; Graves Disease; Hypothyroidism; Thyroiditis, Autoimmune; Hashimoto Disease
PubMed: 38562570
DOI: 10.3389/fendo.2023.1325538 -
International Journal of Molecular... Feb 2023The aim of this review was to present the metabolism of vitamin D, as well as to discuss the role of vitamin D in bone metabolism, temporomandibular joint osteoarthritis... (Review)
Review
The aim of this review was to present the metabolism of vitamin D, as well as to discuss the role of vitamin D in bone metabolism, temporomandibular joint osteoarthritis (TMJ OA), and autoimmune thyroid diseases (AITD) on the basis of the literature. Vitamin D plays a significant role in human health, as it affects the calcium-phosphate balance and regulates the bone metabolism. Calcitriol impresses the pleiotropic effect on human biology and metabolism. Its modulative function upon the immune system is based on the reduction of Th1 cell activity and increased immunotolerance. Vitamin D deficiency may lead to an imbalance in the relationship between Th1/Th17 and Th2, Th17/Th reg, and is considered by some authors as one of the possible backgrounds of autoimmune thyroid diseases (AITD), e.g., Hashimoto's thyroiditis or Graves' disease. Moreover, vitamin D, through its direct and indirect influence on bones and joints, may also play an important role in the development and progression of degenerative joint diseases, including temporomandibular joint osteoarthritis. Further randomized, double blind studies are needed to unequivocally confirm the relationship between vitamin D and abovementioned diseases and to answer the question concerning whether vitamin D supplementation may be used in the prevention and/or treatment of either AITD or OA diseases.
Topics: Humans; Hashimoto Disease; Graves Disease; Vitamin D Deficiency; Temporomandibular Joint; Cholecalciferol; Osteoarthritis; Autoimmune Diseases; Vitamin D; Randomized Controlled Trials as Topic
PubMed: 36835491
DOI: 10.3390/ijms24044080 -
Frontiers in Immunology 2022Autoimmune thyroiditis (AIT) is the most common autoimmune disease, affecting 3-5% patients worldwide. In recent years, approximately 200 articles on AIT have been...
BACKGROUND
Autoimmune thyroiditis (AIT) is the most common autoimmune disease, affecting 3-5% patients worldwide. In recent years, approximately 200 articles on AIT have been published annually in various journals. However, to date, no article has systematically assessed the related literature. Therefore, we conducted a bibliometric analysis on AIT to reveal the dynamic scientific developments and help researchers gain a global perspective while exploring the hotspots and development trends.
METHODS
AIT-related articles and reviews from 2000 to 2022 were retrieved from the Web of Science Core Collection (WoSCC). The following search terms were used to extract document data: TS= (" autoimmune thyroiditi*") OR TI= ("chronic lymphocytic thyroiditi*") OR TI=(hashimoto*) OR TI= ("postpartum thyroiditis"). We selected articles and reviews published in English from 2000 to 2022. Three software programs (VOSviewer, CiteSpace, Pajek) were employed to analyze the contribution and co-occurrence relationships of different references, countries/regions, institutes, journals and also keywords in this field.
RESULTS
This scientometric study included 2290 English papers published in 723 journals with 39661 co-cited references from 561 institutions in 120 countries/regions. Based on the reference and keyword analysis, researchers used to focus on "apoptosis", "insulin resistance", "encephalopathy", "IFN-γ" related to AIT during the past 20 years. However, with the development of other novel directions such as "papillary thyroid cancer" (2018-2022), "Vitamin D" (2016-2022), "oxidative stress" (2018-2022), "polymorphism" (2019-2022) and "association" (2020-2022), researchers are more interested in the relationship between papillary thyroid carcinoma and AIT, the effect of vitamin D supplementation on AIT, the oxidative stress in thyroid disease as well as the influence of polymorphism.
CONCLUSION
Bibliometric analysis of the outputs of AIT shows an overview of the current status of the research on AIT. The associations between papillary thyroid carcinoma, vitamin D, oxidative stress, polymorphism and AIT are major research frontiers. However, further research and collaboration are still required worldwide. Our findings can help researchers grasp the research status of AIT and quickly determine new directions for future research.
Topics: Bibliometrics; Biomedical Research; Female; Hashimoto Disease; Humans; Thyroid Cancer, Papillary; Thyroid Neoplasms; Thyroiditis, Autoimmune; Vitamins
PubMed: 36032148
DOI: 10.3389/fimmu.2022.953465 -
Seizure Aug 2019Hashimoto's encephalopathy is a non-infectious, probably autoimmune encephalitis, characterized by varied signs coupled with elevated levels of anti-thyroid antibodies... (Review)
Review
Hashimoto's encephalopathy is a non-infectious, probably autoimmune encephalitis, characterized by varied signs coupled with elevated levels of anti-thyroid antibodies and, often, good response to corticosteroid therapy. Seizures, namely focal and generalized tonic-clonic seizures, myoclonus, and status epilepticus, are frequent manifestations of Hashimoto's encephalopathy. Typically, seizures in these patients respond poorly to anti-epileptic drugs. Although cases of Hashimoto's encephalopathy with status epilepticus have been reported in literature, they vary in demographic, clinical, and treatment characteristics. We could not identify any systematic review summarizing the evidence in regard to factors predicting the occurrence of status epilepticus in Hashimoto's encephalopathy and the responsiveness of status epilepticus to anti-epileptic drugs, steroids and other immunomodulatory medication. Therefore, we performed an extensive review of the literature to identify and compare Hashimoto's encephalopathy patients presenting with and without status epilepticus. In 31 patients with status epilepticus and 104 patients without status epilepticus, thyroid status, anti-thyroid antibodies, cerebrospinal fluid analysis, brain MRI/CT/SPECT scan did not predict occurrence of status epilepticus of variable phenomenology. Status epilepticus did not respond to anti-epileptic drugs but completely remitted under steroid treatment, alone or in combination with other immunomodulatory medication, in about three quarter of patients. Generalized convulsive status epilepticus might be a factor negatively influencing outcome.
Topics: Adult; Encephalitis; Female; Hashimoto Disease; Humans; Status Epilepticus
PubMed: 31228700
DOI: 10.1016/j.seizure.2019.06.020