Genetics and Genomics of Primary Biliary Cirrhosis

Research output: Contribution to journalReview articlepeer-review

21 Scopus citations


The etiologic and pathogenic factors contributing to primary biliary cirrhosis (PBC) development, progression, response to treatment, and outcome remain a mystery. Recognition of the genomic regions harboring risk factors is hindered by the rarity and late onset of PBC. Recent advancements in genomics hold promise for understanding, prevention, and therapy of PBC. Large registries and biospecimen repositories of patients who have PBC, their family members, and controls are needed. Haplotype mapping-based association studies are necessary for defining genetic predisposition. Experimental data will provide the means for fine mapping studies, resequencing efforts, functional experimentation, and elucidation of gene-environment and gene-gene interaction.

Original languageEnglish (US)
Pages (from-to)349-365
Number of pages17
JournalClinics in liver disease
Issue number2
StatePublished - May 2008

ASJC Scopus subject areas

  • Hepatology


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