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

Abstract

Background: There is growing interest in theCYP2D6 gene because of its key role in the metabolism of numerous commonly used drugs.

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::

• Pharmacogenetics
• drug metabolism
• intra-ethnic variability

Acknowledgements

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.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.