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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.

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

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

Autors: 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;

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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.

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