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1. Ann Hum Biol. 2012 Mar;39(2):137-42.

CYP2D6 gene variants in urban/admixed and Amerindian populations of Venezuela:
Pharmacogenetics and anthropological implications.

Griman P, Moran Y, Valero G, Loreto M, Borjas L, Chiurillo MA.

Laboratorio de Genética Molecular 'Dr Jorge Yunis-Turbay', Decanato de Ciencias
de la Salud, Universidad Centroccidental Lisandro Alvarado (UCLA) , Barquisimeto
3001 , Venezuela.

Background: Differences in genes encoding enzymes involved in the
biotransformation of a large number of compounds, such as CYP2D6, are related to
inter-individual and inter-ethnic variability in the metabolism of many drugs,
which have also been linked to susceptibility to cancer and other health
outcomes. Therefore, populations are likely to benefit from inclusion in
pharmacogenetic research studies. Aim: To determine the frequency of functionally
important allele variants of CYP2D6 gene in a sample of an Urban/admixed and five
Amerindian Venezuelan populations. Subjects and methods: DNA of 328 unrelated
volunteers was analysed for the presence of CYP2D6 *2, *3, *4, *5, *6 and *10
variants. Results: The frequency in the Urban/admixed population for *2, *3, *4,
*5, *6 and *10 alleles was 37.9%, 0%, 13.4%, 2.0%, 1.2% and 4.0%, respectively.
In the Bari population, the prevalence of *4 allele associated with decreased
enzyme activity was observed in 42.5%, whereas the poor metabolizer genotype
*4/*4 was found in 25%. In the Panare, Pemon, Warao and Wayuu populations the *4
allele was found in 5.4%, 2.5%, 1.7% and 4.2%, respectively. The *10 allele
frequency found in Amerindians (0.0-6.3%) was lower than reported for Asians.
Conclusion: The results are consistent with the known genetic admixture origin of
most Venezuela populations. Nevertheless, the observed significant differences
among Amerindians highlight the need for pharmacogenetic studies taking into
account biogeographical and anthropological considerations.

PMID: 22324840 [PubMed - in process]