Association of <i>CTLA‐4</i> polymorphisms with increased risks of myasthenia gravis

Li, Fang; Yuan, Wuzhou; Wu, Xiushan

doi:10.1111/ahg.12262

Cited by 13 publications

(7 citation statements)

References 30 publications

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“…Relating to our findings previous studies identified CTLA4 SNP rs733618 to be significantly associated with myasthenia gravis [ 23 , 24 , 25 ]. An association with PBC or PSC and rs733618 has not been demonstrated yet.…”

Section: Discussionsupporting

confidence: 91%

CTLA-4 Expression Plays a Role in PSC and PBC Progression

et al. 2020

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Background & Aims: The pathogenesis of primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) remains unclear. The aim of this study was to reveal certain single nucleotide polymorphisms (SNP) in genes for regulatory proteins in the immunologic pathway possibly going along with susceptibility of attaining PBC or PSC. Methods: 126 patients with either PBC or PSC with clinical and laboratory data were enrolled in the study. SNPs in three genes (CTLA-4, ICOS, and FOX-P3) which are suspected to play a key role in the autoimmune pathway were analyzed to determine allele variants. Gene expression was measured by RealTime PCR using mRNA. Results: Patients with cirrhosis had a lower number of CTLA-4 copies than patients without cirrhosis (p = 0.04). Accordingly, patients with lower CTLA-4 copies had a poorer recovery of gamma-glutamyltransferase (GGT) in course of their disease (−69.8 U/l vs. −176.1 U/l p = 0.04). Two SNP allele variants (CTLA4 rs733618 and FOXP3 rs2280883) associated with low CTLA-4 expression could be determined. Patients having both variants showed worsening of GGT (−61.7 U/l vs. −132.6 U/l, p = 0.04) and a trend towards a more progressive disease in terms of cirrhosis. (24% vs. 13% p = ns). Conclusions: Low expression of CTLA-4 is associated with a more advanced disease in patients with PBC and PSC. Furthermore, we identified two SNP allele variants (CTLA4-SNP rs733618 and FOXP3-SNP rs2280883) associated with a lower CTLA-4 expression and possibly a more severe course of the diseases. Taken together, these results provide further evidence for the involvement of the immune system in the pathogenesis of these two cholestatic liver diseases. Lay summary: Primary biliary cholangitis and primary sclerosing cholangitis are chronic diseases of the bile ducts. Their cause remains widely unclear, but evidence suggests the immune system plays a central role. This study shows that gene alterations connected to the immune system might play a role in the course of the disease.

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Section: Discussionsupporting

confidence: 91%

CTLA-4 Expression Plays a Role in PSC and PBC Progression

et al. 2020

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“…Polymorphic variants of CTLA-4 gene are implicated in dysregulation of immune homeostasis due to an aberrant activation of T-lymphocytes in the periphery which may cause the infiltration of glands leading to their dysfunction and autoimmune disease development. According to the literature, common CTLA-4 polymorphisms have been found to confer susceptibility to T1D, AITDs (12,33) and other autoimmune disorders (34,35).…”

Section: Introductionmentioning

confidence: 99%

Genetic Association Study of IL2RA, IFIH1, and CTLA-4 Polymorphisms With Autoimmune Thyroid Diseases and Type 1 Diabetes

Borysewicz-Sańczyk

Sawicka

Wawrusiewicz‐Kurylonek

et al. 2020

Front. Pediatr.

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“…The presence of this SNP in chronic HBV patients indicate that the relation of this SNP with persistence of HBV disease in Iraqi patients but not progression disease. The study conducted by Li F et al in 2018 showed that the rs231775 and rs733618 were associated with higher risks of myasthenia gravis (MG) (20) ,and significantly associated with SLE according to Hudson LLet al in 2002, who explain that the rs733618 (−1772T) allele was found in promoter to decrease the transcription level of the CTLA-4 gene by influencing the binding of transcription factors (21) .…”

Section: Discussionmentioning

confidence: 99%

“…CTLA-4 gene encodes a 233 amino-acid protein (12) .There are approximately 100 SNPs have been reported in CTLA-4 gene (13) .These polymorphisms have been investigated for linkage with a number of human certain diseases (14) .The CTLA-4−319C/T polymorphism is associated with the HBV persistence and susceptibility to progression of chronic liver damage, which is consistent with its emerging role in the Tregulatory cells in the pathogenesis of disease (15) . Many studies were indicated an association between CTLA-4 -1722rs733618 and certain disease (16,17) , since this SNP is in the promoter region of the gene, it may alter the http://doi.org/10.36295/ASRO.2021.24533 DOI: 416 | P a g e transcriptional regulation of CTLA-4 (2) ,CTLA-4 haplotypes are important to determinant of HBV recovery, these haplotypes may alter the ability of CTLA-4 to down regulate the immune response (2) .…”

Section: Introductionmentioning

confidence: 99%

Evaluation of cytotoxic T- lymphocyte antigen-4 (CTLA-4) polymorphisms and soluble CTLA-4 (sCTLA-4) in chronic hepatitis B virus infection

Mahdi¹,

Khadhim²,

Shamran³

2021

ASRO

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The cytotoxic T-lymphocyte antigen 4 (CTLA-4) is an inhibitory receptors expressed transiently on CD4+ and CD8+ T cell and constitutively on CD4+CD25+ T-regulator (T-reg) cells. CTLA-4 gene encoded two different protein forms: soluble CTLA-4 (sCTLA-4) and full length CTLA-4 (flCTLA-4). Treg cells were demonstrated to be a prominent source of sCTLA-4.Single nucleotide polymorphisms (SNPs) occurring on the CTLA-4 gene can modify the ability to control the proliferation of T-lymphocytes, thereby impacting the persistence or progression of chronic hepatitis B (HBV) infections.The present study aimed to determine whether the polymorphisms in CTLA-4gene, (CTLA-4-1722T/Crs733618, CTLA-4-319C/T rs5742909and CTLA-4-1661A/G rs4553808) are associated with the progression or persistence of chronic HBV, and the impact of sCTLA-4 on chronic HBV disease in Iraq.Ninety patients with chronic (complicated and uncomplicated) HBV and 30 healthy control were recruited. A blood sample and genomic DNA were collected from all patients, the sCTLA-4 in patients and healthy control are detected by ELISA assay. The CTLA-4-gene was detected by DNA sequencing after amplification of the genes by Conventional PCR with specific primers.All the genotypes for CTLA-4 polymorphisms were analyzed for linkage disequilibrium. There was very high linkage disequilibrium between rs4553808 with rs733618, and in moderate LD with rs420909 suggesting that alleles of these SNPs variants are likely to be inherited together.

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Association of CTLA‐4 polymorphisms with increased risks of myasthenia gravis

Cited by 13 publications

References 30 publications

CTLA-4 Expression Plays a Role in PSC and PBC Progression

CTLA-4 Expression Plays a Role in PSC and PBC Progression

Genetic Association Study of IL2RA, IFIH1, and CTLA-4 Polymorphisms With Autoimmune Thyroid Diseases and Type 1 Diabetes

Evaluation of cytotoxic T- lymphocyte antigen-4 (CTLA-4) polymorphisms and soluble CTLA-4 (sCTLA-4) in chronic hepatitis B virus infection

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