The role of cytochrome P450 isoenzymes on Porphyria Cutanea Tarda development

DIEGO MIGUEL GORDILLO; LUBNA ABOU ASSALI; GABRIELA NORA CERBINO; LAURA SABINA VARELA

Mar del Plata, Buenos Aires

Otro; LXI REUNIÓN ANUAL DE LA SOCIEDAD ARGENTINA DE INVESTIGACIÓN CLÍNICA (SAIC; 2016

SOCIEDAD ARGENTINA DE INVESTIGACIÓN CLÍNICA (SAIC)

Porphyria Cutanea Tarda (PCT) is a disorder characterized by a reduction of Uroporphyrinogen decarboxilase (UROD) activity in all tissues or only in liver in hereditary (H-PCT) or acquired (A-PCT) PCT forms, respectively. In both PCT types multiple susceptibility factors, such as iron excess, smoking, estrogens and halogenated polycyclic hydrocarbons, contribute to liver UROD deficiency. It was suggested a role for CYP1A1 and CYP1A2 isoformes in PCT development. We analised three polymorphisms, one in CYP1A2 and two in CYP1A1 in a group of Argentinean PCT patients and in a control group, with the aim of investigating if they could play some role on PCT manifestation. One hundred PCT patients, 37 H-PCT and 63 A-PCT employing PCR-RFLP were analysed and each variant was compared with 73 controls. The Fisher exact test was used to detect differences in alelles and genotype frequencies, odds ratio and 95% confidential interval. For CYP1A2*1F (-734 C>A) the frecuences of A alelle and A/A genotype are higher for both types of PCT vs control group, being the A allele associated to a more transcriptional activity of CYP1A2 gene. There are significant diferences for A/A (p