RGD Reference Report - Cytochrome p450A1 polymorphisms in a Caucasian population with porphyria cutanea tarda. - Rat Genome Database

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Cytochrome p450A1 polymorphisms in a Caucasian population with porphyria cutanea tarda.

Authors: Gardlo, K  Selimovic, D  Bolsen, K  Ruzicka, T  Abel, J  Fritsch, C 
Citation: Gardlo K, etal., Exp Dermatol. 2003 Dec;12(6):843-8.
RGD ID: 11576310
Pubmed: PMID:14714565   (View Abstract at PubMed)

Porphyria cutanea tarda (PCT) is the most frequent porphyria in humans. The familial type is in contrast to the sporadic type due to an inherited defect of the uroporphyrinogen-II-decarboxylase (URO-D) and both types need additional porphyrinogens to lead to the clinical manifestation of the disease. Various factors such as xenobiotics (i.e. polycyclic aromatic hydrocarbons), alcohol, hormones and viral liver infections (hepatitis B and C) are known to induce porphyria. Cytochrome p450 enzymes play a crucial role in the metabolism of porphyrogens and therefore might have an important influence on the pathogenesis of hepatic porphyrias. Association of CYP1A2 polymorphisms with susceptibility to both types of PCT has already been described in Danish patients. We investigated 65 caucasian patients with PCT in comparison to a healthy control group concerning the tpe of PCT and the cytochrome p4501A1 polymorphisms (m1, m2 and m4) using polymerase chain reaction (PCR) and a restriction fragment length polymorphism. We found an increased incidence of the m4 polymorphism in the familial type of PCT (odds ratio 5.5, P-value 0.01), whereas the m1 and m2 mutations, might be provoked by a higher susceptibility to porphyrogens via the cytochrome p4501A1 m4 polymorphism.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
porphyria cutanea tarda  IAGP 11576310 RGD 
porphyria cutanea tarda  ISOCYP1A1 (Homo sapiens)11576310; 11576310 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cyp1a1  (cytochrome P450, family 1, subfamily a, polypeptide 1)

Genes (Mus musculus)
Cyp1a1  (cytochrome P450, family 1, subfamily a, polypeptide 1)

Genes (Homo sapiens)
CYP1A1  (cytochrome P450 family 1 subfamily A member 1)


Additional Information