Distribution of CYP2C19*2 and CYP2C19*3 polymorphisms in Venezuelan populations with different admixture.

Background: The conquest and colonization of Venezuela generated very heterogeneous populations as a product of admixture; for this reason, the distribution of polymorphisms of the CYP2C19 gene was studied in various Venezuelan populations.

Methods: Two hundred and eighty-one individuals, from three Venezuelan populations with different admixtures, were genotyped for CYP2C19*2 and CYP2C19*3 polymorphisms. Differences between groups were analysed using a chi-square test of heterogeneity and association of allele frequencies with the level of genetic admixture was performed using a principal component analysis (PCA).

Admixture estimates for Caracas, Venezuela, based on autosomal, Y-chromosome, and mtDNA markers.

The present Venezuelan population is the product of admixture of Amerindians, Europeans, and Africans, a process that was not homogeneous throughout the country. Blood groups, short tandem repeats (STRs), mtDNA, and Y-chromosome markers have been used successfully in admixture studies, but few such studies have been conducted in Venezuela. In this study we aim to estimate the admixture components of samples from two different socioeconomic levels from Caracas, Venezuela's capital city, compare their differences, and infer sexual asymmetry in the European Amerindian union patterns.