mirage

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

ABACUS/Manakin Repository

Show simple item record

dc.contributor.author Fontanellas, Antonio spa
dc.contributor.author Martínez-Fresno, M. spa
dc.contributor.author Garrido Astray, María Concepción spa
dc.contributor.author Perucho, Teresa spa
dc.contributor.author Morán-Jiménez, María Josefa spa
dc.contributor.author García-Bravo, María spa
dc.contributor.author Méndez, Manuel spa
dc.contributor.author Poblete-Gutiérrez, Pamela spa
dc.contributor.author Frank, Jorge spa
dc.contributor.author Henriques-Gil, Nuno spa
dc.contributor.author Enríquez de Salamanca, Rafael spa
dc.date.accessioned 2013-11-27T17:26:27Z
dc.date.available 2013-11-27T17:26:27Z
dc.date.issued 2010 spa
dc.identifier.citation Fontanellas, A., Martínez‐Fresno, M., Garrido‐Astray, M. C., Perucho, T., Morán‐Jiménez, M. J., García‐Bravo, M., ..., & Enríquez-Salamanca, R. (2010). Smoking but not homozygosity for CYP1A2 g‐163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda. Experimental Dermatology, 19(8), e326-e328. spa
dc.identifier.uri http://hdl.handle.net/11268/735
dc.description.abstract 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. spa
dc.language.iso eng spa
dc.title Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda spa
dc.type article spa
dc.description.impact 4.159 JCR (2010) Q1, 6/55 Dermatology spa
dc.identifier.doi 10.1111/j.1600-0625.2009.01040.x spa
dc.rights.accessRights closedAccess en
dc.subject.unesco Enfermedades de la piel spa
dc.peerreviewed Si spa


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record