TY - JOUR 
A1 - Fontanellas, Antonio
AU - Martínez-Fresno, M.
AU - Garrido Astray, María Concepción
AU - Perucho, Teresa
AU - Morán-Jiménez, María Josefa
AU - García-Bravo, María
AU - Méndez, Manuel
AU - Poblete-Gutiérrez, Pamela
AU - Frank, Jorge
AU - Henriques-Gil, Nuno
AU - Enríquez de Salamanca, Rafael
T1 - Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda
Y1 - 2010
UR - http://hdl.handle.net/11268/735
AB - Porphyria cutanea tarda (PCT) results from decreased activity of hepatic uroporphyrinogen decarboxylase (UROD). Both sporadic and familial forms are characterised by typical cutaneous lesions triggered by genetic/environmental factors. Studies in rodents showed that cytochrome P4501A2 (CYP1A2) plays a central role in the synthesis of a competitive inhibitor of hepatic UROD, but there is little evidence in humans. The impact of smoking and CYP1A2 g-163C > A allelic variant upon first appearance of clinical signs was investigated in 102 patients (80 sporadic-PCT) and 150 healthy donors from Spain. We found an increase in the frequency of CYP1A2 g-163A allele in patients with PCT when compared with controls, although the more inducible A/A genotype had no effect on the onset age. In sporadic-PCT, smoking leads to earlier onset of clinically overt disease in moderate-to-heavy smokers (>or=10 cigarettes/day). In conclusion, this study provides evidence that smoking hastens the onset of cutaneous symptoms in sporadic-PCT patients.
KW - Enfermedades de la piel
LA - eng
ER -