Genetic Polymorphisms of Cytotoxic T-Lymphocyte Antigen 4 in Primary Biliary Cholangitis: A Meta-Analysis

Yang, Xiaojun; Fujino, Masayuki; Cai, Shanshan; Li, Shaowei; Liu, Chi; Li, Xiaokang

doi:10.1155/2017/5295164

Cited by 6 publications

(5 citation statements)

References 54 publications

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“…Moreover, the high quality of the genotyping assays (ie, the genotyping call rate = 100%, with unambiguous allelic discrimination plots) suggested a violation of HWE assumptions in the study groups rather than technical genotyping errors as proposed by Esser et al 23 and experienced in our previous publication. 18 The CTLA4 rs231775 variant has been reported to be associated with various autoimmune diseases such as Graves' disease in adults 24 and autoimmune hypothyroidism in children of the Han Chinese population, 25 multiple sclerosis, 26 vitiligo, 7 vasculitis, 27 systemic lupus erythematosus, [28][29][30] rheumatoid arthritis, 31,32 latent autoimmune diabetes in adults, 33 primary biliary cirrhosis, 34 primary biliary cholangitis, 35 and Pemphigus Vulgaris. 36,37 Additionally, a more recent meta-analysis by Wang and colleagues indicated a significant association of CTLA4 rs231775 with autoimmune diseases' susceptibility under different genetic models, highlighting its potential implication as a diagnostic genetic biomarker in both Asian and Caucasian populations.…”

Section: Discussionmentioning

confidence: 99%

Impact of cytotoxic T‐lymphocyte‐associated protein 4 codon 17 variant and expression on vitiligo risk

Gouda

Fawzy

Toraih

2021

Clinical Laboratory Analysis

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Background Cytotoxic T‐lymphocyte‐associated protein 4 (CTLA‐4) is one of the essential brakes expressed on T cells that prevent T‐cell hyperactivation‐associated autoimmune disorders. Several CTLA4 polymorphisms were implicated in the regulation of gene expression. We aimed to explore the association of CTLA4 expression and rs231775 (c.49A>G) variant with vitiligo risk and severity of the disease in a sample of the Middle Eastern population. Methods The CTLA4 gene expression and genotyping for rs231775 (A/G) variant were assessed in 161 vitiligo patients and 165 controls using a real‐time polymerase chain reaction. Vitiligo Area Severity Index (VASI) and Vitiligo Disease Activity score (VIDA) were evaluated. Results A higher frequency of rs231775 G allele was observed in vitiligo cases than controls (45% vs. 33%, p = 0.002). After adjustment of age, sex, family history of vitiligo, and CTLA expression level, using multivariate analysis, G/G carriers were associated with a higher risk of vitiligo under recessive (OR = 2.94, 95% CI = 1.61–5.35, p < 0.001), dominant (OR = 1.87, 95% CI = 1.14–3.06, p = 0.013), and homozygote comparison (OR = 3.34, 95% CI = 1.73–6.42, p = 0.001) models. Although the CTLA4 relative expression levels were comparable to that of controls, G/G carriers exhibited a significantly lower expression profile (median = 0.63, IQR = 0.34–1.75) than A/A (median = 1.43, IQR = 0.39–4.25, p = 0.018) and A/G carriers (median = 1.68, IQR = 0.49–3.92, p = 0.007). No significant associations of CTLA4 variant/expression with disease severity and/or activity were observed. Conclusion The CTLA4 rs231775 variant was associated with vitiligo susceptibility and gene expression; the risky genotype (GG) was associated with lower CTLA4 relative expression levels than the other genotypes. Further large‐scale studies in different populations are warranted.

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Section: Discussionmentioning

confidence: 99%

Impact of cytotoxic T‐lymphocyte‐associated protein 4 codon 17 variant and expression on vitiligo risk

Gouda

Fawzy

Toraih

2021

Clinical Laboratory Analysis

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“… 32 Another study conducted in Japan failed also to find any significant association of the CTLA4 CT60 G/A gene polymorphism with PBC susceptibility and onset. 33 …”

Section: Discussionmentioning

confidence: 99%

Cytotoxic T lymphocyte antigen-4 gene polymorphisms and susceptibility to type 1 autoimmune hepatitis in the Tunisian population

et al. 2018

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Genetic factors and gene polymorphisms leading to the onset of autoimmune response in autoimmune hepatitis (AIH) are still not full elucidated. Since the CTLA-4 molecule is a key modulator of the lymphocytes responses we hypothezied that deficiencies or mutations in the gene encoding CTLA4 protein may be involved in AIH susceptibility and trigger the autoimmune response. We investigated 3 distinct polymorphic sites (+49A > G, CT60 G > A and –318C > T) of the CTLA4 gene in 50 AIH patients and 100 healthy controls using the KASP genotyping technology. A significant positive association with AIH susceptibility was found for the GG genotype in +49 position of the CTLA4 gene which was significantly higher in AIH patients compared to controls (28% vs 9%, p = 0.003, OR = 3.93 [1.56–9.88]). The CTLA4 A/A genotype in position CT60 was more significantly frequent in controls comparing to AIH patients and could be considered as a protective genotype for the tunisian patients. CTLA4 genotyping in position −318 did not show any statistically significant difference in genotype or allele distribution. The CTLA4 gene polymorphism in position +49 is associated to AIH susceptibility in the Tunisian population. Mutation in the CTLA4 gene may lead to a modification of the CTLA4 protein structure that could have functional relevance in AIH pathogenesis and onset.

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“…2 Single nucleotide polymorphisms (SNPs) involving the CTLA-4 gene have been implicated in several autoimmune disorders such as Type 1 diabetes, autoimmune thyroid disease, autoimmune hepatitis, and primary biliary cirrhosis. [3][4][5][6] A soluble form of CTLA-4 (sCTLA-4) has also been shown to be increased in systemic lupus erythematosus, myasthenia gravis, and autoimmune thyroid disease. 7 Umemura et al concluded that AIP is associated with CTLA-4 polymorphisms and is positively correlated with sCTLA-4 levels.…”

Section: Autoimmune Pancreatitismentioning

confidence: 99%

Autoimmune pancreatitis: What we know so far

Masood

2021

JGH Open

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Autoimmune pancreatitis (AIP) is a rare, often‐missed disease that involves inflammation of the pancreas and strictures of the pancreatic duct. Its prevalence and incidence in the United States remain scarce. The disease has a varied presentation and often mimics pancreatic malignancy, which can make the diagnosis challenging. Most patients have an excellent response to corticosteroid therapy. Immunomodulators may be used in some cases. Rituximab is an effective, emerging treatment in steroid‐refractory cases. This study aims to review the two distinct types of AIP and provide a detailed analysis of the diagnostic approach and treatment modalities.

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Genetic Polymorphisms of Cytotoxic T-Lymphocyte Antigen 4 in Primary Biliary Cholangitis: A Meta-Analysis

Cited by 6 publications

References 54 publications

Impact of cytotoxic T‐lymphocyte‐associated protein 4 codon 17 variant and expression on vitiligo risk

Impact of cytotoxic T‐lymphocyte‐associated protein 4 codon 17 variant and expression on vitiligo risk

Cytotoxic T lymphocyte antigen-4 gene polymorphisms and susceptibility to type 1 autoimmune hepatitis in the Tunisian population

Autoimmune pancreatitis: What we know so far

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