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 |
Autoimmune Hepatitis Type 1, Mestizo Venezuelan, Genetics, Immunopathology, T Lymphocyte
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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
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
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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Download@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}
}
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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