3.8 Article

Impact of genetic and environmental factors on autoimmune hepatitis

Journal

JOURNAL OF TRANSLATIONAL AUTOIMMUNITY
Volume 4, Issue -, Pages -

Publisher

ELSEVIER
DOI: 10.1016/j.jtauto.2021.100125

Keywords

Autoimmune hepatitis; HLA-DR; Single nucleotide polymorphisms; Epigenetics

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Funding

  1. Hellenic Association for the Study of the Liver (HASL)
  2. Research Committee of the University of Thessaly [2466]
  3. Federation for the Development of Internal Medicine in Europe (FDIME)

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Autoimmune hepatitis is a chronic liver disease characterized by hypergammaglobulinemia, autoantibodies, and genetic predisposition, with epigenetic modifications potentially playing a crucial role in its pathogenesis.
Autoimmune hepatitis (AIH) is a chronic non-resolving liver disease characterized by diffuse hypergammaglobulinemia, the presence of autoantibodies and characteristic histological findings. The disease can have catastrophic outcome with the development of end-stage liver disease if misdiagnosed/undiagnosed and left untreated. AIH pathogenesis remains obscure and the main hypothesis supports its development in genetically predisposed individuals after being exposed to certain environmental triggers. Genetic predisposition is linked to the presence of certain HLA alleles, mainly HLA-DR3 and HLA-DR4. However, a wide number of non-HLA epitopes have also been associated with the disease although data vary significantly among different ethnic groups. Therefore, it is likely that epigenetic alterations may also play a crucial role in disease's pathogenesis, although not yet extensively studied. The aim of this review was to summarize the genetic and environmental factors that have been associated with AIH, but also to open new insights towards the role of epigenetic modifications in the etiology of the disease.

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