Detalle Publicación

Smoking but not homozygosity for CYP1A2 g-163a allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda

Autores: Fontanellas Roma, Antonio; Martínez-Fresno, María; Garrido-Astray, María Concepción; Perucho, Teresa; Morán-Jiménez, María Josefa; García-Bravo, María; Méndez, Manuel; Poblete-Gutiérrez, Pamela; Frank, Jorge; Henriques-Gil, Nuno; Enríquez de Salamanca, Rafael
Título de la revista: Experimental Dermatology
ISSN: 0906-6705
Volumen: 19
Número: 8
Páginas: e326 - e328
Fecha de publicación: 2010
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.