Genetic syndromes could contribute to the risk of developing AIH with a primitive gene mutation that compromises an immune response. For examples, it is demonstrated role of some gene products such as, FOXP3, ICOS, TIGIT, CTLA4, in pro-inflammatory/pro-B helper profile.

The genetic contribution to the AIH is based on over- and under-representation analyses of differentially expressed genes, genome-wide association studies (GWAS), which target genetic variants correlated with intricate traits, including the risk of developing AIH and the presumption that AIH is part of single abnormal genetic disorders.

Elucidating the genetic architecture of AIH, PBC, and PSC is likely to contribute to a better understanding of these diseases by identifying causative genes and downstream signaling pathways that can be influenced pharmacologically.

Jan 28, 2021 · In this review, we summarize the genetic risk factors for AIH, including human leukocyte antigen (HLA) and non- HLA genes. A genome-wide association study (GWAS) on European AIH revealed the strongest associations to be …

Sep 27, 2021 · Autoimmune hepatitis (AIH) is a chronic inflammatory condition of the liver due to an autoimmune attack against hepatocytes. What triggers the disease remains unknown, though risk factors have...

Genome-wide association analyses suggest that HLA genes including HLA-DRB*0301, HLA-DRB*0401, and HLA-B*3501 as well as non-HLA genes including CD28/CTLA4/ICOS and SYNPR increased AIH susceptibility. The destruction of hepatocytes is the result of the imbalance between proinflammatory cells and immu …

Jan 28, 2021 · In this review, we summarize the genetic risk factors for AIH, including human leukocyte antigen (HLA) and non-HLA genes. A genome-wide association study (GWAS) on European AIH revealed the strongest associations to be …

An enhanced host immunogenetic risk of AIH has been suggested based on reports of familial occurrence and reproducible genetic associations within the HLA complex on chromosome 6p21. 10 Up to now, evaluation of the genetics of AIH has focused on small scale, usually nonreplicated, candidate gene studies.

Sep 28, 2022 · Autoimmune hepatitis (AIH) is a chronic inflammatory liver disease with a fluctuating course, that progresses to cirrhosis and liver failure if not adequately treated. AIH shows a non-Mendelian inheritance; therefore, a single genetic locus cannot be associated with the development of the disease.

Ctla4 gene mutations may lead to changes in the structure of CTLA-4 protein, leading to onset of AIH. a20 encoded by Tnfaip3 is an inhibitor of the nuclear factor (NF)-kB signaling pathway and a susceptibility gene for autoimmune diseases.