A novel multidrug-resistance protein 2 gene mutation identifies a subgroup of patients with primary biliary cirrhosis and pruritus.
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.
Floreani
Annarosa
A
Department of Surgical and Gastroenterological Sciences, University of Padova, Italy. annarosa.floreani@unipd.it
Carderi
Isabella
I
Variola
Angela
A
Rizzotto
Erik Rosa
ER
Nicol
James
J
Bergasa
Nora V
NV
D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics*; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000150:complications* / Q000235:genetics*; D009154:Mutation; D011537:Pruritus / Q000209:etiology* / Q000235:genetics*; D000097202:ATP-Binding Cassette Sub-Family B Member 4
D018435:ATP Binding Cassette Transporter, Subfamily B; D000097202:ATP-Binding Cassette Sub-Family B Member 4