Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda

Individuals with the most common form of the porphyrias, porphyria cutanea tarda (PCT), are believed to be genetically predisposed to development of c linically overt disease through mutations and polymorphisms in genes associ ated with known precipitating factors. In this study, we have examined a gr oup 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 high ly inducible A/A genotype is increased in both familial and sporadic PCT. T his suggests that inheritance of this genotype is a susceptibility factor i n development of PCT.