PMID- 10759233
OWN - NLM
STAT- MEDLINE
DCOM- 20000420
LR  - 20190721
IS  - 0163-2116 (Print)
IS  - 0163-2116 (Linking)
VI  - 45
IP  - 4
DP  - 2000 Apr
TI  - Apolipoprotein E polymorphism in alagille syndrome and progressive familial 
      intrahepatic cholestasis.
PG  - 675-9
AB  - 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.
FAU - Socha, P
AU  - Socha P
AD  - Children's Memorial Health Institute & National Institute of Food and Nutrition, 
      Warsaw, Poland.
FAU - Nowicka, G
AU  - Nowicka G
FAU - Jankowska, I
AU  - Jankowska I
FAU - Rujner, J
AU  - Rujner J
FAU - Pawlowska, J
AU  - Pawlowska J
FAU - Socha, J
AU  - Socha J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Dig Dis Sci
JT  - Digestive diseases and sciences
JID - 7902782
RN  - 0 (Apolipoproteins E)
RN  - 0 (Cholagogues and Choleretics)
RN  - 724L30Y2QR (Ursodeoxycholic Acid)
RN  - 97C5T2UQ7J (Cholesterol)
RN  - RFM9X3LJ49 (Bilirubin)
SB  - IM
MH  - Adolescent
MH  - Alagille Syndrome/blood/drug therapy/*genetics
MH  - Apolipoproteins E/*genetics
MH  - Bilirubin/blood
MH  - Child
MH  - Child, Preschool
MH  - Cholagogues and Choleretics/*therapeutic use
MH  - Cholelithiasis/blood/*genetics/prevention & control
MH  - Cholestasis, Intrahepatic/blood/drug therapy/*genetics
MH  - Cholesterol/*blood
MH  - Female
MH  - Humans
MH  - Male
MH  - Phenotype
MH  - Polymorphism, Genetic
MH  - Pruritus/etiology
MH  - Retrospective Studies
MH  - Ursodeoxycholic Acid/*therapeutic use
EDAT- 2000/04/12 09:00
MHDA- 2000/04/25 09:00
CRDT- 2000/04/12 09:00
PHST- 2000/04/12 09:00 [pubmed]
PHST- 2000/04/25 09:00 [medline]
PHST- 2000/04/12 09:00 [entrez]
AID - 10.1023/a:1005475106198 [doi]
PST - ppublish
SO  - Dig Dis Sci. 2000 Apr;45(4):675-9. doi: 10.1023/a:1005475106198.