A novel multidrug-resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus

Hepatology. 2006 May;43(5):1152-4. doi: 10.1002/hep.21165.

Abstract

A single nucleotide polymorphism characterized by the substitution of valine for glutamate (V1188E) in exon 25 of the multidrug resistance protein 2 gene was found in a group of patients with primary biliary cirrhosis. This heterozygous mutation was significantly associated with the presence of pruritus.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B / genetics*
  • ATP-Binding Cassette Sub-Family B Member 4
  • Humans
  • Liver Cirrhosis, Biliary / complications*
  • Liver Cirrhosis, Biliary / genetics*
  • Mutation*
  • Pruritus / etiology*
  • Pruritus / genetics*

Substances

  • ATP Binding Cassette Transporter, Subfamily B