Association between CTLA-4 gene polymorphism and myasthenia gravis in a Chinese cohort

Cai, Gaomei; Gao, Zhe; Yue, Yao-Xian; Xie, Yanyan; Gao, Xiang; Hao, Hongjun; Zhang, Xianjun; Wang, Qi; Liang, Bing; Li, Haifeng

doi:10.1016/j.jocn.2019.08.079

Cited by 9 publications

(6 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The rs3087243*A allele also was less frequent in OMGs than in generalized MG. The combination of rs733618*C, rs231775*G, and rs3087243*G alleles increased the risk of MG and OMG type in this cohort [63]. In another study in China, CTLA-4 methylation and CTLA-4 expression in the peripheral blood of MG patients were higher and lower than in controls, respectively and these results were the possible reasons for related cytokines secretion in MG [64].…”

Section: Genetic Factors In Mgmentioning

confidence: 50%

Overview of biomarkers in myasthenia gravis

Afrashteh

Rajabi

2022

Explor Neuroprot Ther

View full text Add to dashboard Cite

Myasthenia gravis (MG) is a rare auto-immune neuromuscular junction (NMJ) disorder which is caused by formation of autoantibodies and destruction of NMJ components. The MG diagnosis is based on the symptoms, autoantibodies detection and paraclinical tests. Given that MG patients have so many differential diagnosis and various medication responses, choosing an accurate diagnosis and the therapy plan in MG is challenging. According to the studies, there are the immunologic, genetic, microRNAs, gut microbiome, and other established or newly proposed biomarkers for diagnosis and prognosis of MG. More studies are needed to provide better collection of biomarkers in MG patients and evaluate their role in MG pathology.

show abstract

Section: Genetic Factors In Mgmentioning

confidence: 50%

Overview of biomarkers in myasthenia gravis

Afrashteh

Rajabi

2022

Explor Neuroprot Ther

View full text Add to dashboard Cite

show abstract

“…From a therapeutic perspective, a key molecule is CTLA4, which affects T cell receptor signaling. The possible involvement of CTLA4 in MG/TAMG has been indicated in independent studies, 108–112 and CTLA4 blockage was reported to be a successful treatment for TAMG in a patient with melanoma who received this treatment 113 . In addition, serial studies reporting the association between parvovirus B19 infection and MG/TAMG appear meaningful to the discussion of possible triggers 114,115 …”

Section: Disease‐relevant Phenotypes In Tetsmentioning

confidence: 91%

Histogenetic and disease‐relevant phenotypes in thymic epithelial tumors (TETs): The potential significance for future TET classification

Yamada

2023

Pathology International

View full text Add to dashboard Cite

Thymic epithelial tumors (TETs) encompass morphologically various subtypes. Thus, it would be meaningful to explore the expression phenotypes that delineate each TET subtype or overarching multiple subtypes. If these profiles are related to thymic physiology, they will improve our biological understanding of TETs and may contribute to the establishment of a more rational TET classification. Against this background, pathologists have attempted to identify histogenetic features in TETs for a long time. As part of this work, our group has reported several TET expression profiles that are histotype‐dependent and related to the nature of thymic epithelial cells (TECs). For example, we found that beta5t, a constituent of thymoproteasome unique to cortical TECs, is expressed mainly in type B thymomas, for which the nomenclature of cortical thymoma was once considered. Another example is the discovery that most thymic carcinomas, especially thymic squamous cell carcinomas, exhibit expression profiles similar to tuft cells, a recently discovered special type of medullary TEC. This review outlines the currently reported histogenetic phenotypes of TETs, including those related to thymoma‐associated myasthenia gravis, summarizes their genetic signatures, and provides a perspective for the future direction of TET classification.

show abstract

“…Specific gene associations with autoimmune disease are outlined in Table 2. Many of these Genome-wide association studies (GWAS) single nucleotide polymorphisms (SNPs) highlight the dialectic nature of T-cell immune regulation in cancer and autoimmunity -the allele for cancer risk is often the opposite to that for autoimmune disease (132,134,157,158,(166)(167)(168)(169)(170). Systemic testing for common autoimmune risk loci could provide a pathway for personalized biomarkers for ICI response and toxicity (171).…”

Section: Shared Genetic Predisposition To Autoimmunity Irae and Ici R...mentioning

confidence: 99%

Insights Into the Host Contribution of Endocrine Associated Immune-Related Adverse Events to Immune Checkpoint Inhibition Therapy

et al. 2022

View full text Add to dashboard Cite

Blockade of immune checkpoints transformed the paradigm of systemic cancer therapy, enabling substitution of a cytotoxic chemotherapy backbone to one of immunostimulation in many settings. Invigorating host immune cells against tumor neo-antigens, however, can induce severe autoimmune toxicity which in many cases requires ongoing management. Many immune-related adverse events (irAEs) are clinically and pathologically indistinguishable from inborn errors of immunity arising from genetic polymorphisms of immune checkpoint genes, suggesting a possible shared driver for both conditions. Many endocrine irAEs, for example, have analogous primary genetic conditions with varied penetrance and severity despite consistent genetic change. This is akin to onset of irAEs in response to immune checkpoint inhibitors (ICIs), which vary in timing, severity and nature despite a consistent drug target. Host contribution to ICI response and irAEs, particularly those of endocrine origin, such as thyroiditis, hypophysitis, adrenalitis and diabetes mellitus, remains poorly defined. Improved understanding of host factors contributing to ICI outcomes is essential for tailoring care to an individual’s unique genetic predisposition to response and toxicity, and are discussed in detail in this review.

show abstract

Association between CTLA-4 gene polymorphism and myasthenia gravis in a Chinese cohort

Cited by 9 publications

References 43 publications

Overview of biomarkers in myasthenia gravis

Overview of biomarkers in myasthenia gravis

Histogenetic and disease‐relevant phenotypes in thymic epithelial tumors (TETs): The potential significance for future TET classification

Insights Into the Host Contribution of Endocrine Associated Immune-Related Adverse Events to Immune Checkpoint Inhibition Therapy

Contact Info

Product

Resources

About