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CTLA-4, ICOS, PD1 and PTPN22 Gene Polymorphisms and Susceptibility to Autoimmune Hepatitis Type 1

Received: 30 June 2017     Accepted: 10 July 2017     Published: 10 August 2017
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Abstract

Autoimmune hepatitis type 1 (AIH-1) is a progressive inflammatory liver disorder in which HLA Class II gene polymorphism prevails as the most important genetic risk. However, other gene polymorphisms have been associated with this disease. The single nucleotide polymorphisms of four candidate genes (CTLA-4 +49A/G, ICOS c.1564 T/C, PD1.3 G/A, PTPN22 1858C/T) were selected in this study. One-hundred and ninety (190) mestizo Venezuelan unrelated individuals grouped in AIH-1 patients (n=70) and healthy subjects (n=120) were evaluated. Our results showed significantly increased frequency of the PTPN22 1858 C/T (p= 0.0014; pc= 0.0042; OR= 8.7; 99%CI: 1.82-41.54) and ICOS c.1564 T/C (p= 0.070; pc=0.21; OR= 2.08; 95%CI: 1.09-3.93) genotypes in the patient population compared to control group. There was no significant association between CTLA-4 +49A/G and PD1.3 G/A genotypes in both groups. In addition, the PTPN22 1858C/T polymorphism was associated to cirrhosis, treatment relapse, increased IgG levels and co-existence of other autoimmune diseases. Furthermore, the ICOS c.1564 T/C polymorphism was related to higher levels of globulins, IgG and presence of ANA. Conclusion: this data suggest for the first time, that PTPN22 1858 C/T and ICOS c.1564 T/C gene polymorphisms are associated with the development of AIH-1.

Published in International Journal of Immunology (Volume 5, Issue 4)
DOI 10.11648/j.iji.20170504.12
Page(s) 66-73
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2017. Published by Science Publishing Group

Keywords

Autoimmune Hepatitis Type 1, Mestizo Venezuelan, Genetics, Immunopathology, T Lymphocyte

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Cite This Article
  • APA Style

    María Del Pilar Fortes, Paolo Tassinari, Irma Machado. (2017). CTLA-4, ICOS, PD1 and PTPN22 Gene Polymorphisms and Susceptibility to Autoimmune Hepatitis Type 1. International Journal of Immunology, 5(4), 66-73. https://doi.org/10.11648/j.iji.20170504.12

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    ACS Style

    María Del Pilar Fortes; Paolo Tassinari; Irma Machado. CTLA-4, ICOS, PD1 and PTPN22 Gene Polymorphisms and Susceptibility to Autoimmune Hepatitis Type 1. Int. J. Immunol. 2017, 5(4), 66-73. doi: 10.11648/j.iji.20170504.12

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    AMA Style

    María Del Pilar Fortes, Paolo Tassinari, Irma Machado. CTLA-4, ICOS, PD1 and PTPN22 Gene Polymorphisms and Susceptibility to Autoimmune Hepatitis Type 1. Int J Immunol. 2017;5(4):66-73. doi: 10.11648/j.iji.20170504.12

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  • @article{10.11648/j.iji.20170504.12,
      author = {María Del Pilar Fortes and Paolo Tassinari and Irma Machado},
      title = {CTLA-4, ICOS, PD1 and PTPN22 Gene Polymorphisms and Susceptibility to Autoimmune Hepatitis Type 1},
      journal = {International Journal of Immunology},
      volume = {5},
      number = {4},
      pages = {66-73},
      doi = {10.11648/j.iji.20170504.12},
      url = {https://doi.org/10.11648/j.iji.20170504.12},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.iji.20170504.12},
      abstract = {Autoimmune hepatitis type 1 (AIH-1) is a progressive inflammatory liver disorder in which HLA Class II gene polymorphism prevails as the most important genetic risk. However, other gene polymorphisms have been associated with this disease. The single nucleotide polymorphisms of four candidate genes (CTLA-4 +49A/G, ICOS c.1564 T/C, PD1.3 G/A, PTPN22 1858C/T) were selected in this study. One-hundred and ninety (190) mestizo Venezuelan unrelated individuals grouped in AIH-1 patients (n=70) and healthy subjects (n=120) were evaluated. Our results showed significantly increased frequency of the PTPN22 1858 C/T (p= 0.0014; pc= 0.0042; OR= 8.7; 99%CI: 1.82-41.54) and ICOS c.1564 T/C (p= 0.070; pc=0.21; OR= 2.08; 95%CI: 1.09-3.93) genotypes in the patient population compared to control group. There was no significant association between CTLA-4 +49A/G and PD1.3 G/A genotypes in both groups. In addition, the PTPN22 1858C/T polymorphism was associated to cirrhosis, treatment relapse, increased IgG levels and co-existence of other autoimmune diseases. Furthermore, the ICOS c.1564 T/C polymorphism was related to higher levels of globulins, IgG and presence of ANA. Conclusion: this data suggest for the first time, that PTPN22 1858 C/T and ICOS c.1564 T/C gene polymorphisms are associated with the development of AIH-1.},
     year = {2017}
    }
    

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  • TY  - JOUR
    T1  - CTLA-4, ICOS, PD1 and PTPN22 Gene Polymorphisms and Susceptibility to Autoimmune Hepatitis Type 1
    AU  - María Del Pilar Fortes
    AU  - Paolo Tassinari
    AU  - Irma Machado
    Y1  - 2017/08/10
    PY  - 2017
    N1  - https://doi.org/10.11648/j.iji.20170504.12
    DO  - 10.11648/j.iji.20170504.12
    T2  - International Journal of Immunology
    JF  - International Journal of Immunology
    JO  - International Journal of Immunology
    SP  - 66
    EP  - 73
    PB  - Science Publishing Group
    SN  - 2329-1753
    UR  - https://doi.org/10.11648/j.iji.20170504.12
    AB  - Autoimmune hepatitis type 1 (AIH-1) is a progressive inflammatory liver disorder in which HLA Class II gene polymorphism prevails as the most important genetic risk. However, other gene polymorphisms have been associated with this disease. The single nucleotide polymorphisms of four candidate genes (CTLA-4 +49A/G, ICOS c.1564 T/C, PD1.3 G/A, PTPN22 1858C/T) were selected in this study. One-hundred and ninety (190) mestizo Venezuelan unrelated individuals grouped in AIH-1 patients (n=70) and healthy subjects (n=120) were evaluated. Our results showed significantly increased frequency of the PTPN22 1858 C/T (p= 0.0014; pc= 0.0042; OR= 8.7; 99%CI: 1.82-41.54) and ICOS c.1564 T/C (p= 0.070; pc=0.21; OR= 2.08; 95%CI: 1.09-3.93) genotypes in the patient population compared to control group. There was no significant association between CTLA-4 +49A/G and PD1.3 G/A genotypes in both groups. In addition, the PTPN22 1858C/T polymorphism was associated to cirrhosis, treatment relapse, increased IgG levels and co-existence of other autoimmune diseases. Furthermore, the ICOS c.1564 T/C polymorphism was related to higher levels of globulins, IgG and presence of ANA. Conclusion: this data suggest for the first time, that PTPN22 1858 C/T and ICOS c.1564 T/C gene polymorphisms are associated with the development of AIH-1.
    VL  - 5
    IS  - 4
    ER  - 

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Author Information
  • Genetic Immunology Section, Immunology Institute/Universidad Central de Venezuela, Caracas, Venezuela

  • Genetic Immunology Section, Immunology Institute/Universidad Central de Venezuela, Caracas, Venezuela

  • Genetic Immunology Section, Immunology Institute/Universidad Central de Venezuela, Caracas, Venezuela

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