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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.

Analysis of institutional authors

Martinez-Fresno, MAuthorHenriques-Gil, NAuthor

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August 1, 2016
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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

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

Authors: 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;

Affiliations

European Univ Madrid, Dept Morphol Sci & Physiol, Madrid, Spain - Author
Hosp Univ 12 Octubre, Res Ctr, Madrid, Spain - Author
Maastricht Univ, Ctr Mol Dermatol, Univ Med Ctr Maastricht, Maastricht, Netherlands - Author
Univ Med Ctr Maastricht, Dept Dermatol, Maastricht, Netherlands - Author
Univ Med Ctr Maastricht, EPCM, Maastricht, Netherlands - Author
Univ Med Ctr Maastricht, GROW Sch Oncol & Dev Biol, Maastricht, Netherlands - Author
Univ Navarra, Gene Therapy & Hepatol Area, Ctr Appl Med Res, CIMA, Pamplona 31008, Spain - Author
Univ San Pablo CEU, Genet Lab, Madrid, Spain - Author
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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.

Keywords

AssociationCytochrome p4501a2 allelic variantEnzymesGeneInductionIronMiceMutationsOnset of cutaneous symptomsPolymorphismPorphyriaTobacco smokeUroporphyrinogen decarboxylase

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal EXPERIMENTAL DERMATOLOGY due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2010, it was in position 6/55, thus managing to position itself as a Q1 (Primer Cuartil), in the category Dermatology.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 1.7, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jul 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-07-22, the following number of citations:

  • WoS: 11
  • Scopus: 11
  • Europe PMC: 5

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-07-22:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 12.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 12 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 1.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Netherlands.