title: Apolipoprotein E polymorphism in alagille syndrome and progressive familial intrahepatic cholestasis.
abstract: The aim of the study was to assess the apolipoprotein E polymorphism (apoE) in two familial cholestatic diseases-Alagille syndrome (AS) and progressive familial intrahepatic cholestasis (PFIC)-and to estimate its association with gallstone formation, cholesterol levels, and response to UDCA treatment. We investigated 16 children with AS age 8.8 +/- 5.7 years (mean +/- SD) and 18 children with PFIC age 6.3 +/- 4.6 years. The frequency of the epsilon-2 allele in AS and PFIC was higher and the frequency of the epsilon-3 allele was lower than in controls. Gallstones were diagnosed in nine children with PFIC and different apoE phenotypes. No association between phenotype and cholesterol levels or response to UDCA therapy was observed in the patients studied. In conclusion, the allele epsilon-2 is overrepresented in AS and PFIC, similar to primary biliary cirrhosis, although this does not seem to contribute to different cholesterol levels, gallstones, and response to UDCA therapy.
authors.affiliation: Children's Memorial Health Institute & National Institute of Food and Nutrition, Warsaw, Poland.
authors.forename: P
authors.initials: P
authors.lastname: Socha
authors.forename: G
authors.initials: G
authors.lastname: Nowicka
authors.forename: I
authors.initials: I
authors.lastname: Jankowska
authors.forename: J
authors.initials: J
authors.lastname: Rujner
authors.forename: J
authors.initials: J
authors.lastname: Pawłowska
authors.forename: J
authors.initials: J
authors.lastname: Socha
mesh_terms: D000293:Adolescent; D016738:Alagille Syndrome / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D001663:Bilirubin / Q000097:blood; D002648:Child; D002675:Child, Preschool; D002756:Cholagogues and Choleretics / Q000627:therapeutic use*; D002769:Cholelithiasis / Q000097:blood / Q000235:genetics* / Q000517:prevention & control; D002780:Cholestasis, Intrahepatic / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D002784:Cholesterol / Q000097:blood*; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D011537:Pruritus / Q000209:etiology; D012189:Retrospective Studies; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use*
chemical_list: D001057:Apolipoproteins E; D002756:Cholagogues and Choleretics; D014580:Ursodeoxycholic Acid; D002784:Cholesterol; D001663:Bilirubin