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Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda

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Abstract

Individuals with the most common form of the porphyrias, porphyria cutanea tarda (PCT), are believed to be genetically predisposed to development of clinically overt disease through mutations and polymorphisms in genes associated with known precipitating factors. In this study, we have examined a group of Danish patients with PCT for the presence of the C/A polymorphism in intron 1 of CYP1A2. The results demonstrate that the frequency of the highly inducible A/A genotype is increased in both familial and sporadic PCT. This suggests that inheritance of this genotype is a susceptibility factor in development of PCT.

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Authors and Affiliations

  1. Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense C, Denmark

    L. Christiansen, A. Jensen, M. Hørder & N. E. Petersen

  2. Department of Dermato-Venereology, Odense University Hospital, Odense, Denmark

    A. Bygum & F. Brandrup

  3. Department of Dermato-Venereology, Bispebjerg Hospital, Copenhagen, Denmark

    K. Thomsen

Authors
  1. L. Christiansen
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  2. A. Bygum
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  3. A. Jensen
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  4. K. Thomsen
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  5. F. Brandrup
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  6. M. Hørder
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  7. N. E. Petersen
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Correspondence to L. Christiansen.

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Christiansen, L., Bygum, A., Jensen, A. et al. Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda. Hum Genet 107, 612–614 (2000). https://doi.org/10.1007/s004390000415

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  • DOI: https://doi.org/10.1007/s004390000415

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