期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 64, 期 6, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2021.104214
关键词
Autoimmune hepatitis; Human leukocyte antigen; Regulatory T-cells
Autoimmune Hepatitis (AIH) is a complex chronic liver disease affecting all age groups, with a higher prevalence in women. The main goal of therapy is to prevent cirrhosis through lifelong immunosuppressive treatment. AIH is believed to stem from an immune response against unknown self-antigens, potentially triggered by viral infections, with specific genetic risk factors such as HLA-DRB1*03:01 and HLA-DRB1*04:01 playing a role in disease development.
Autoimmune Hepatitis (AIH) is a heterogenous, mostly chronic liver disease that affects people of all age groups, women more often than men. The aim of therapy is to prevent cirrhosis, as it mainly accounts for liver-related mortality in patients with AIH. Rates of remission are high in patients with AIH, but life-long immunosuppressive therapy is required. AIH is hypothesized to originate from immunologic reactivity targeted against mostly unknown self-antigens, potentially triggered by viral infections among other factors. While AIH does not follow a Mendelian inheritance pattern, part of the risk of developing AIH or worse disease course, is attributed to specific genetic risk factors. Major associations for the risk of development of AIH were found for HLA-DRB1*03:01 and HLA-DRB1*04:01 in adult AIH in the only genome-wide association study on AIH. However, other potential risk loci in SH2B3, CARD10 and KIR genes were described. This review covers the current knowledge on genetic risk factors in adult and pediatric AIH.
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