Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda
- 1 December 2000
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 107 (6) , 612-614
- https://doi.org/10.1007/s004390000415
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.Keywords
This publication has 26 references indexed in Scilit:
- CYP1A2 Is Essential in Murine Uroporphyria Caused by Hexachlorobenzene and IronToxicology and Applied Pharmacology, 2000
- Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tardaScandinavian Journal of Clinical and Laboratory Investigation, 2000
- Genetic Polymorphism in the 5'-Flanking Region of HumanCYP1A2 Gene: Effect on the CYP1A2 Inducibility in HumansThe Journal of Biochemistry, 1999
- Functional significance of a C→A polymorphism in intron 1 of the cytochrome P450 CYP1A2 gene tested with caffeineBritish Journal of Clinical Pharmacology, 1999
- Are His63Asp or Cys282Tyr HFE Mutations Associated with Porphyria Cutanea Tarda? Data of Patients from Central and Southern ItalyJournal of Investigative Dermatology, 1998
- Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in north america†Hepatology, 1998
- High prevalence of the His63Asp HFE mutation in italian patients with porphyria cutanea tardaHepatology, 1998
- Role of cytochrome P4501A2 in chemical carcinogenesis: implications for human variability in expression and enzyme activityPharmacogenetics, 1995
- A population and family study of CYP1A2 using caffeine urinary metabolitesEuropean Journal of Clinical Pharmacology, 1995
- Polycyclic aromatic hydrocarbons cause hepatic porphyria in iron-loaded C57BL/10 mice: Comparison of uroporphyrinogen decarboxylase inhibition with induction of alkoxyphenoxazone dealkylationsBiochemical and Biophysical Research Communications, 1987