Association of Estrogen Receptor Gene Polymorphisms and Primary Biliary Cirrhosis in a Chinese Population: A Case-Control Study.

The presence of positive anti-mitochondrial antibody (AMA) is the main serological criterion for making the diagnosis.[ 1 2 ] Although details of the pathogenesis are unknown, genetic factors have been implicated to be involved in the development of PBC.[ 3 ] In previous studies, the genetic typing of HLA class II and III alleles revealed a highly significant increase in HLA DR8, DPB1 * 0501, and 0301, C4A*B2 and C4A*Q0 complement alleles in patients with PBC compared with controls, and the HLA DRB1 * 0801-DQA1 * 0401-DQB1 * 0402 haplotype was considered to represent a marker of disease progression.[ 3 4 5 ] A number of genes outside the MHC locus may play a role in susceptibility to autoimmune liver diseases.[ 6 7 ] Recently, polymorphisms of cytotoxic T lymphocyte-associated antigen-4 and vitamin D receptor genes have been associated with autoimmune hepatitis (AIH) and PBC in Chinese patients.

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