Genetic factors affect the etiology, clinical characteristics and outcome of autoimmune hepatitis

Autoimmune hepatitis (AIH) is characterized by chronic inflammation of the liver, hypergammaglobulinemia, the presence of serum autoantibodies, histologic evidence of interface hepatitis, and a favorable response to immunosuppressive treatment. Although the etiology of AIH remains undefined, human leukocyte antigen (HLA) class II alleles have been associated with disease onset for decades. AIH resistance and severity are presumably linked to HLA alleles as well. Individuals in different geographic regions of the world may have varying susceptibility alleles that reflect indigenous triggering antigens. In this review, we describe the influence of HLA alleles and gene polymorphisms on AIH, along with the results of genome-wide association studies on this disease.