Background/aims: To determine whether the apolipoprotein E (apo-E) polymorphism is associated with the risk of primary biliary cirrhosis (PBC), the severity of the disease and its response to ursodeoxycholic acid (UDCA) therapy.
Methods: The apo-E genotype was determined in 72 PBC patients. Genotype and allele distributions were compared with those found in the French general population. Laboratory parameters obtained before and after 1- and 4-year UDCA treatment were compared according to the apo-E allele carrier status.
Results: Apo-E allele and genotype distributions were similar between PBC patients and the general population. At the time of diagnosis, the epsilon4 allele carriers were younger (P < 0.05), had higher bilirubin (P < 0.05) and IgG (P < 0.001) levels and a lower prothrombin index (P < 0.01) than epsilon2 (homozygous + heterozygous) or epsilon3 homozygous allele carriers. After 4-year UDCA therapy, the decrease in serum alkaline phosphatase and in alanine and aspartate aminotransferase activities was lower in percentage in the epsilon4 than in other epsilon allele carriers (P < 0.01).
Conclusions: Although apo-E polymorphism does not appear to confer susceptibility to PBC, it probably influences PBC progression and response to UDCA. The epsilon4 allele may identify patients with high risk of severe disease and poor response to treatment.