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Apolipoprotein E Polymorphism in Alagille Syndrome and Progressive Familial Intrahepatic Cholestasis

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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 ε-2 allele in AS and PFIC was higher and the frequency of the ε-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 ε-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.

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Authors and Affiliations

  1. Children's Memorial Health Institute & National Institute of Food and Nutrition, Warsaw, Poland

    P. Socha, G. Nowicka, I. Jankowska, J. Rujner, J. Pawłowska & J. Socha

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  1. P. Socha
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  2. G. Nowicka
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  3. I. Jankowska
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  4. J. Rujner
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  5. J. Pawłowska
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  6. J. Socha
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Socha, P., Nowicka, G., Jankowska, I. et al. Apolipoprotein E Polymorphism in Alagille Syndrome and Progressive Familial Intrahepatic Cholestasis. Dig Dis Sci 45, 675–679 (2000). https://doi.org/10.1023/A:1005475106198

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  • DOI: https://doi.org/10.1023/A:1005475106198

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