title: Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda.
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.
authors.affiliation: Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, Denmark. lene.christiansen@ouh.fyns-amt.dk
authors.forename: L
authors.initials: L
authors.lastname: Christiansen
authors.forename: A
authors.initials: A
authors.lastname: Bygum
authors.forename: A
authors.initials: A
authors.lastname: Jensen
authors.forename: K
authors.initials: K
authors.lastname: Thomsen
authors.forename: F
authors.initials: F
authors.lastname: Brandrup
authors.forename: M
authors.initials: M
authors.lastname: Hørder
authors.forename: N E
authors.initials: NE
authors.lastname: Petersen
mesh_terms: D019388:Cytochrome P-450 CYP1A2 / Q000096:biosynthesis / Q000235:genetics*; D004247:DNA; D004790:Enzyme Induction; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D011110:Polymorphism, Genetic; D017119:Porphyria Cutanea Tarda / Q000201:enzymology / Q000235:genetics*
chemical_list: D004247:DNA; D019388:Cytochrome P-450 CYP1A2