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Grant support

This study was funded by a Grant from Universidad Europea de Madrid (ref. # 2006/UEM 13) and partially funded by the Spanish Ministry of Education (EX-2007-1124). We acknowledge Drs. Esther Esteban and Pedro Moral for their assistance.

Analysis of institutional authors

Gomez-Gallego, FelixAuthor

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Article

CYP2D6 polymorphism screening in a selected population of Spain (La Alpujarra): No effect of geographical isolation

Publicated to:Annals Of Human Biology. 37 (2): 268-274 - 2010-04-01 37(2), DOI: 10.3109/03014460903051658

Authors: Fernandez-Santander, Ana; Luna, Francisco; Santiago, Catalina; Teresa Rodriguez, Maria; Bandres, Fernando; Ruiz, Jonatan R; Lucia, Alejandro; Gomez-Gallego, Felix

Affiliations

Karolinska Inst, Dept Biosci & Nutr NOVUM, Unit Prevent Nutr, Huddinge, Sweden - Author
Univ Complutense Madrid, Dept Biol Anim Antropol 1, E-28040 Madrid, Spain - Author
Univ Europea Madrid, Villaviciosa De Odon 28670, Spain - Author

Abstract

Aim: We compared the frequency of the most frequent nullCYP2D6 alleles (CYP2D6*3,CYP2D6*4,CYP2D6*5,CYP2D6*6,CYP2D6*7 andCYP2D6*8) between individuals from the Spanish population and from La Alpujarra.Subjects and methods: The present study comprises Spanish cohort (n = 185) and from La Alpujarra (n = 104). The latter is a small mountainous region of Spain that shows a remarkable degree of geographical and cultural isolation. We genotyped six polymorphisms in the coding region of theCYP2D6 gene, i.e. five single nucleotide polymorphisms (SNP) (CYP2D6*3,CYP2D6*4,CYP2D6*6,CYP2D6*7 andCYP2D6*8) and one deletion (CYP2D6*5).Results: No significant differences were observed between groups in allelic and genotype distributions of the aforementioned variants. The total frequency of functional alleles was comparable between the two groups (79% and 81.3% in controls and La Alpujarra, respectively).Conclusion: Despite demographic and cultural isolation in La Alpujarra, the distribution ofCYP2D6 polymorphisms in habitants of this area is similar to that reported in the rest of Spain. At present, there seems to be little allele heterogeneity inCYP2D6 amongst different European populations (e.g. amongst different Spanish populations) that have shown diversity in other loci.

Keywords

AlleleAssociationConsequencesDiversityDrug metabolismEuropeFrequenciesIntra-ethnic variabilityIntraethnic variabilityMediterranean populationPharmacogeneticsRaceSpanish

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Annals Of Human Biology 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 38/116, thus managing to position itself as a Q2 (Segundo Cuartil), in the category Public, Environmental & Occupational Health. Notably, the journal is positioned en el Cuartil Q2 para la agencia Scopus (SJR) en la categoría Public Health, Environmental and Occupational Health.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-06-16:

  • WoS: 4
  • Scopus: 4
  • OpenCitations: 3

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 2025-06-16:

  • 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: 19 (PlumX).

Leadership analysis of institutional authors

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

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: Last Author (Gómez Gallego, Félix).