&amp;lt;i&amp;gt;CTLA-4, ICOS, PD1&amp;lt;/i&amp;gt; and &amp;lt;i&amp;gt;PTPN22&amp;lt;/i&amp;gt; Gene Polymorphisms and Susceptibility to Autoimmune Hepatitis Type 1

Fortes, María del Pilar

doi:10.11648/j.iji.20170504.12

IJI

2017

DOI: 10.11648/j.iji.20170504.12

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

María del Pilar Fortes¹

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… Show more

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Cited by 2 publications

References 48 publications

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Search for Genetic Predictors of Adult Autoimmune Polyendocrine Syndrome in Monozygotic Twins

Yukina

Larina

Vasilyev

et al. 2021

Clin Med Insights Endocrinol Diabetes

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Autoimmune polyendocrine syndromes (APS) are a heterogeneous group of diseases characterized by the presence of autoimmune dysfunction of 2 or more endocrine glands and other non-endocrine organs. The components of the syndrome can manifest throughout life: in childhood—APS type 1 (the juvenile type) and in adulthood—APS type 2, 3, and 4 (the adult types). Adult types of APS are more common in clinical practice. It is a polygenic disease associated with abnormalities in genes encoding key regulatory proteins of the major histocompatibility complex (MHC). The search of for candidate genes responsible for mutations in adult APS is continuing. Genetic predisposition is insufficient for the manifestation of the APS of adults, since the penetrance of the disease, even among monozygotic twins, does not approach 100% (30–70%). The article presents the case of isolated Addison’s disease and APS type 2 in monozygotic twins with a revealed compound heterozygosity in the candidate gene VTCN1.

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Search for Genetic Predictors of Adult Autoimmune Polyendocrine Syndrome in Monozygotic Twins

Yukina

Larina

Vasilyev

et al. 2021

Clin Med Insights Endocrinol Diabetes

View full text Add to dashboard Cite

show abstract

HLA and Non-HLA gene polymorphisms in autoimmune hepatitis patients of North Indian adults

et al. 2023

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Autoimmune hepatitis (AIH) is a chronic and progressive disease of the liver. This is a multifactorial autoimmune disease with both environmental factors and genetic factors playing a role in its pathogenesis. Certain environmental agents like viruses, drugs, etc., can trigger the disease in a genetically susceptible individual. The present study was aimed to explore the distribution of human leukocyte antigen (HLA)-DRB1, Protein tyrosine phosphatase non-receptor type 22 (PTPN22) and Cytotoxic T-Lymphocyte-associated protein 4 (CTLA-4) polymorphisms in North Indian adult AIH patients and their associations with clinical and pathological characteristics associated with the disease. A total of 147 subjects with 47 cases and 100 healthy controls were enrolled. Diagnosis of AIH was made by Revised International Autoimmune Hepatitis Group scoring system. HLA-DRB1 Typing was done by Luminex-based reverse Sequence-Specific Oligonucleotide Probing (SSOP). Single nucleotide variant (SNV) genotyping for CTLA-4 and PTPN22 was done by simple probe-based SNP arrays. Results indicated SLA positive AIH patients are poor responders to therapy. A significant predispositional association of HLA-DRB1*03 was observed in AIH patients from the North Indian population (p= 0.0001, OR=4.83 (2.30-10.15). The frequency of the GG genotype of CTLA-4 CT 60 was significantly increased in AIH patients compared to controls. Multinomial analysis showed that CTLA-4 CT 60 is an independent predictor for cases.

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

Cited by 2 publications

References 48 publications

Search for Genetic Predictors of Adult Autoimmune Polyendocrine Syndrome in Monozygotic Twins

Search for Genetic Predictors of Adult Autoimmune Polyendocrine Syndrome in Monozygotic Twins

HLA and Non-HLA gene polymorphisms in autoimmune hepatitis patients of North Indian adults

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