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Genetic susceptibility to primary biliary cirrhosis
K Agarwal1, D E Jones, M F Bassendine
1Centre for Liver Research, University of Newcastle, Newcastle Upon Tyne, UK.
European Journal of Gastroenterology & Hepatology
|July 27, 1999
Summary
Genetic factors influence primary biliary cirrhosis (PBC) susceptibility. Association studies, particularly examining HLA DR8, are identifying genes contributing to this complex autoimmune disease.
Area of Science:
- Immunogenetics
- Autoimmune Diseases
- Hepatology
Background:
- Family studies indicate a genetic component in primary biliary cirrhosis (PBC) susceptibility.
- PBC is considered a polygenic disease, likely influenced by multiple genes with small effects.
- Existing genetic research primarily relies on association studies with varying dataset sizes.
Purpose of the Study:
- To review current understanding of genetic predisposition to primary biliary cirrhosis.
- To discuss the role of specific genes, including MHC class II antigen HLA DR8, in PBC risk.
- To explore emerging approaches for identifying susceptibility genes in autoimmune disorders like PBC.
Main Methods:
- Review of published association studies on genetic factors in PBC.
- Analysis of evidence supporting the role of specific genetic markers, such as HLA DR8.
- Discussion of candidate gene approaches, including cytokines and immunomodulatory molecules.
Main Results:
- Evidence suggests a significant association between HLA DR8 and increased PBC risk across populations.
- Several polymorphic genes with additive effects are postulated to contribute to PBC susceptibility.
- Ongoing research is investigating various candidate genes implicated in autoimmune disease mechanisms.
Conclusions:
- Genetic factors, particularly specific HLA alleles like DR8, play a role in primary biliary cirrhosis.
- Further association studies with larger datasets are crucial for identifying all contributing susceptibility genes.
- Understanding the genetic architecture of PBC is essential for unraveling its autoimmune pathogenesis.
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