Programmed cell death-1 rs11568821 and interleukin-28B rs12979860 polymorphisms in autoimmune hepatitis

Gatselis, Nikolaos; Azariadis, Kalliopi; Lyberopoulou, Aggeliki; Dalekos, George Ν.

doi:10.1016/j.jtauto.2021.100126

Cited by 4 publications

(4 citation statements)

References 73 publications

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“…Mice with PD1 deficiency tended to suffer lupus‐like arthritis and glomerulonephritis 20 . In addition, there are associations between PD1 SNPs and susceptibility to ITP and autoimmune hepatitis 21,22 . Blockade of PD1 has been reported to restore the antitumor response of T cells and relieve the leukemia burden 23,24 .…”

Section: Discussionmentioning

confidence: 99%

“… 20 In addition, there are associations between PD1 SNPs and susceptibility to ITP and autoimmune hepatitis. 21 , 22 Blockade of PD1 has been reported to restore the antitumor response of T cells and relieve the leukemia burden. 23 , 24 In our study, we found that the C allele of rs10204525, the co‐dominant GG and GA, the recessive AA, and the G allele of rs2227982 in PD1 were associated with susceptibility to AML.…”

Section: Discussionmentioning

confidence: 99%

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Immune checkpoint‐related gene polymorphisms are associated with acute myeloid leukemia

Wu,

Li,

Meng

et al. 2023

Cancer Medicine

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BackgroundChemotherapy is still the standard regimen for treating acute myeloid leukemia (AML) and its disappointing efficacy requires the urgent need for new therapeutic targets. It is well known that immune response plays an increasingly significant role in the pathogenesis of AML.MethodsWe detected nine single nucleotide polymorphisms (SNPs) in immune checkpoint‐related genes, including PD1, LAG3, TIM3, and TIGIT in 285 AML inpatients and 324 healthy controls. SNP genotyping was performed on the MassARRAY platform. Furthermore, we analyzed the relationship between the susceptibility and prognosis of AML and the selected SNPs.ResultsOur results showed that rs2227982 and rs10204525 in PD1 were significantly associated with susceptibility to AML after false discovery rate correction. PD1 rs10204525 also showed a significant correlation with the response to chemotherapy and risk stratification of AML. Importantly, the AA genotype of PD1 (rs2227982) under the recessive model showed a negative impact on AML prognosis independently.ConclusionsOur results indicate that PD1 SNPs are important for susceptibility and prognosis in AML, which may provide a new therapeutic target for AML patients.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Immune checkpoint‐related gene polymorphisms are associated with acute myeloid leukemia

Wu,

Li,

Meng

et al. 2023

Cancer Medicine

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“…We focused on the promoter region of genes, because the SNP located in the promoter region may affect the expression level of gene ( 17 ). In addition, the hot points of autoimmune diseases and cancer types were considered, including rs231775 in exon1 of CTLA4 ( 18 , 19 ), rs3087243 in 3 prime untranslated region (3’UTR) of CTLA4 ( 19 ) and rs11568821 in intron4 of PDCD1 ( 20 ). Thus, eight fragments were selected for SNP analysis.…”

Section: Methodsmentioning

confidence: 99%

Association between the side effect induced by COVID-19 vaccines and the immune regulatory gene polymorphism

Chen

Wen²,

Lin³

et al. 2022

Front. Immunol.

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People often worry about the side effects after vaccination, reducing the willingness to vaccinate. Thus, we tried to find out the risk of single nucleotide polymorphism (SNP) vaccines to improve the willingness and confidence in vaccination. Allergic and inflammatory reactions are the common vaccine side effects caused by immune system overreaction. In addition, a previous study showed significantly higher frequency of febrile reactions to measles vaccines in American Indians than in Caucasian children, indicating that the side effects varied in accordance with genetic polymorphisms in individuals. Thus, SNPs of immune regulatory genes, cytotoxic T-lymphocyte-associated protein 4 (CTLA4), CD28, tumor necrosis factor ligand superfamily member 4 (TNFSF4) and programmed cell death protein 1 (PDCD1) were included in this study to analyze their association with vaccine side effects. Moreover, 61 healthy participants were asked on the number of doses they received, the brand of the vaccine, and the side effects they suffered. We found that several SNPs were associated with side effects after the first or second dose of mRNA or adenoviral vector vaccines. Furthermore, these SNPs were associated with several autoimmune diseases and cancer types; thus, they played an important role in immune regulation. Moreover, rs3181096 and rs3181098 of CD28, rs733618 and rs3087243 of CTLA, and rs1234314 of TNFSF4 were associated with mild vaccine side effects induced by mRNA and adenoviral vector vaccines, which would play a potential role in vaccine-induced immune responses and may further lead to fatal side effects. These results could serve as a basis for investigating the mechanism of vaccine side effects. Furthermore, it was hoped that these results would address public concerns about the side effects of the COVID-19 vaccination. In clinical application, a rapid screening test can be performed to assess the risk of vaccine side effects before vaccination and provide immediate treatment.

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“…CD28-CTLA4-ICOS and SYNPR [15]. In this context, we have recently shown in Greek patients with AIH, that IL28B rs12979860 CC genotype is associated with higher rates of successful treatment withdrawal after achievement of complete biochemical response (CBR), while no association was found between PD1.3 polymorphisms and susceptibility to AIH or disease severity at presentation, response to treatment and outcome [16].…”

Section: Introductionmentioning

confidence: 96%

Recent advances in the diagnosis and management of autoimmune hepatitis

Dalekos¹,

Samakidou²,

Lyberopoulou³

et al. 2022

Polish Archives of Internal Medicine

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Autoimmune hepatitis (AIH) is an acute or chronic inflammatory disease of the liver caused by an unclear immune response that affects people from all ethnic groups irrespective of age or sex. It is characterized by hyperglobulinemia, circulating autoantibodies and liver inflammation. The clinical picture of the disease varies from asymptomatic and/or mild to severe acute hepatitis or liver failure. A timely and prompt diagnosis is of utmost importance to prevent progression to advanced liver disease by immediate initiation of immunosuppressive treatment. So far, several diagnosing scoring systems have incorporated the demographics, biochemical, clinical, and histological characteristics of the disease.However, due to the high heterogeneity of the disease presentation, AIH diagnosis remains challenging. Most patients initially respond to first-line treatment, which consists of corticosteroids combined with azathioprine while some authorities also suggest the use of mycophenolate mofetil instead. However, insufficient response and intolerance due to side effects are common, so a significant proportion of patients requires second-and/or third-line therapies. Herein, we review the challenges and recent advances in AIH diagnosis and management.

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Programmed cell death-1 rs11568821 and interleukin-28B rs12979860 polymorphisms in autoimmune hepatitis

Cited by 4 publications

References 73 publications

Immune checkpoint‐related gene polymorphisms are associated with acute myeloid leukemia

Immune checkpoint‐related gene polymorphisms are associated with acute myeloid leukemia

Association between the side effect induced by COVID-19 vaccines and the immune regulatory gene polymorphism

Recent advances in the diagnosis and management of autoimmune hepatitis

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