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

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dc.contributor.author Fernández Santander, Ana spa
dc.contributor.author Luna, Francisco spa
dc.contributor.author Santiago Dorrego, Catalina spa
dc.contributor.author Rodríguez, María Teresa spa
dc.contributor.author Bandrés Moya, Fernando spa
dc.contributor.author Ruiz, Jonatan R. spa
dc.contributor.author Lucía Mulas, Alejandro spa
dc.contributor.author Gómez Gallego, Félix spa
dc.date.accessioned 2013-11-27T17:26:25Z
dc.date.available 2013-11-27T17:26:25Z
dc.date.issued 2010 spa
dc.identifier.citation Fernández-Santander, A., Luna, F., Santiago-Dorrego, C., Rodríguez, M. T., Bandrés-Moya, F., Ruiz, J. R., ..., & Gómez-Gallego, F. (2010). CYP2D6 polymorphism screening in a selected population of Spain (La Alpujarra): no effect of geographical isolation. Annals of Human Biology, 37(2), 268-274. spa
dc.identifier.issn 14645033 spa
dc.identifier.uri http://hdl.handle.net/11268/704
dc.description.abstract Background: Aim: Subjects and Methods: Results: Conclusion: There is growing interest in the CYP2D6 gene because of its key role in the metabolism of numerous commonly used drugs.We compared the frequency of the most frequent null CYP2D6 alleles (CYP2D6*3, CYP2D6*4,CYP2D6*5, CYP2D6*6, CYP2D6*7 and CYP2D6*8) between individuals from the Spanish population and from La Alpujarra.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 the CYP2D6 gene, i.e. five single nucleotide polymorphisms (SNP) (CYP2D6*3, CYP2D6*4, CYP2D6*6,CYP2D6*7 and CYP2D6*8) and one deletion (CYP2D6*5).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).Despite demographic and cultural isolation in La Alpujarra, the distribution of CYP2D6 polymorphisms in inhabitants of this area is similar to that reported in the rest of Spain. At present, there seems to be little allele heterogeneity in CYP2D6 amongst different European populations (e.g., amongst different Spanish populations) that have shown diversity in other loci. spa
dc.language.iso eng spa
dc.title CYP2D6 polymorphism screening in a selected population of Spain (La Alpujarra): no effect of geographical isolation spa
dc.type article spa
dc.description.impact 1.713 JCR (2010) Q2, 37/86 Biology, 63/142 Public, environmental & occupational health spa
dc.identifier.doi 10.1080/03014460903051658 spa
dc.rights.accessRights openAccess en
dc.subject.unesco Genética humana spa
dc.subject.unesco Investigación empírica spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa


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