Indexado en

Licencia y uso

Citaciones

Cited 11 times in

Cited 11 times in

Altmetrics

Grant support

Work in the authors' laboratory is supported by: the agreement between FIMA and the 'UTE project CIMA' (to A. F), Spanish Fundacion Mutua Madrilena (to A. F, M. M-F, N. H-G, R. E. S) and grants from Ministerio de Sanidad y Consumo FIS PI061475 and FIS PI02/1888 (to RES and AF). JF is a board member of the European Porphyria Initiative (EPI) and was, in part, supported by grant A04155HS, GIS-Institut des Maladies Rares: Network on rare diseases from the EPI and a grant from the European Union to the European Porphyria Network (EPNET), Program of Community Action in the Field of Public Health project no. 2006107.

Análisis de autorías institucional

Compartir

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

Publicado en:Experimental Dermatology. 19 (8): E326-E328 - 2010-08-01 19(8), DOI: 10.1111/j.1600-0625.2009.01040.x

Autores: Fontanellas, Antonio; Martinez-Fresno, Maria; Concepcion Garrido-Astray, Maria; Perucho, Teresa; Moran-Jimenez, Maria-Josefa; Garcia-Bravo, Maria; Mendez, Manuel; Poblete-Gutierrez, Pamela; Frank, Jorge; Henriques-Gil, Nuno; Enriquez de Salamanca, Rafael;

Afiliaciones

Resumen

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.

Palabras clave