Physiogenomic Analysis of the Puerto Rican Population

Ruaño, Gualberto; Ducongé, Jorge; Windemuth, Andreas; Cadilla, Carmen L.; Kocherla, Mohan; Villagra, David; Renta, Jessica Y.; Holford, Theodore R.; Santiago-Borrero, Pedro J.

doi:10.2217/pgs.09.5

Cited by 23 publications

(34 citation statements)

References 49 publications

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“…Admixed populations may differ from other populations in frequency, distribution, and combination of allelic variants in the genome [8]. Hispanics in the United States are a case of admixture, with mainly a trichotomous ancestral contribution of the following distant parental populations: Europeans, Native Americans, and West-Africans [7, 9, 10]. Using principal component analysis of autosomal genotype data in Hispanics and other putative ancestral populations, a tri-hybrid admixture pattern was confirmed by Bryc and coworkers [11].…”

Section: Introductionmentioning

confidence: 99%

Pharmacogenetics of drug-metabolizing enzymes in US Hispanics

Claudio‐Campos

Duconge

Cadilla

et al. 2014

Drug Metabolism and Personalized Therapy

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Although the Hispanic population is continuously growing in the United States, they are underrepresented in pharmacogenetic studies. This review addresses the need for compiling available pharmacogenetic data in US Hispanics, discussing the prevalence of clinically relevant polymorphisms in pharmacogenes encoding for drug-metabolizing enzymes. CYP3A5*3 (0.245–0.867) showed the largest frequency in a US Hispanic population. A higher prevalence of CYP2C9*3, CYP2C19*4, and UGT2B7 IVS1+985 A>Gwas observed in US Hispanic vs. non-Hispanic populations. We found interethnic and intraethnic variability in frequencies of genetic polymorphisms for metabolizing enzymes, which highlights the need to define the ancestries of participants in pharmacogenetic studies. New approaches should be integrated in experimental designs to gain knowledge about the clinical relevance of the unique combination of genetic variants occurring in this admixed population. Ethnic subgroups in the US Hispanic population may harbor variants that might be part of multiple causative loci or in linkage-disequilibrium with functional variants. Pharmacogenetic studies in Hispanics should not be limited to ascertain commonly studied polymorphisms that were originally identified in their parental populations. The success of the Personalized Medicine paradigm will depend on recognizing genetic diversity between and within US Hispanics and the uniqueness of their genetic backgrounds.

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Section: Introductionmentioning

confidence: 99%

Pharmacogenetics of drug-metabolizing enzymes in US Hispanics

Claudio‐Campos

Duconge

Cadilla

et al. 2014

Drug Metabolism and Personalized Therapy

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“…The highly admixed structure and trichotomous ancestry of Puerto Ricans was early described by our group, after analyzing data from an array of 384 SNPs in 222 cardiometabolic and neuroendocrine genes [14,15]. The analysis revealed that each subject in the Puerto Rican population was a ‘genetic mosaic’, with contributions from each of these three clusters (i.e., Caucasians, Africans and Amerindians), but in widely different proportions.…”

Section: Introductionmentioning

confidence: 99%

“…This admixture pattern gives rise to many combinatorial genotypes that impacts important pharmacological, biochemical and physiological pathways. Since such a rich repertoire of combinatorial genotypes is not present in traditional studies with more homogenous populations, we strongly believe that admixed populations (e.g., Hispanic Puerto Ricans) have the potential to be a better resource to develop DNA-guided algorithms for the treatment of different medical conditions [14,15]. …”

Section: Introductionmentioning

confidence: 99%

Frequencies of Functional Polymorphisms in Three Pharmacokinetic Genes of Clinical Interest within the Admixed Puerto Rican Population

Orengo-Mercado

Nieves²,

López³

et al. 2013

J Pharmacogenom Pharmacoproteomics

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Objective This cross-sectional study was aimed at determining the allele frequencies for the CYP2C19*2, CYP2C19*3, CYP2D6*10 and PON1 (rs662) polymorphisms in the Puerto Rican population. The CYP2C19, CYP2D6 and PON1 genes are known to be associated with functional changes in drug metabolism and activation. Individuals carrying the aforementioned polymorphisms are at a higher risk of suffering from drug-induced adverse events and/ or unresponsiveness from a variety of drugs that includes antidepressants, atypical antipsychotics and antiplatelet compounds. Information on the frequency of these polymorphisms is more commonly found on homogeneous populations, but is scarce in highly heterogeneous populations like Hispanics, as in the case of Puerto Ricans. Method Genotyping was carried out in 100 genomic DNA samples from dried blood spots supplied by the Puerto Rican Newborn Screening program using Taqman® Genotyping Assays. Results The Minor Allele Frequencies (MAF) obtained were 9% for CYP2C19*2 and CYP2D6*10, 50% for PON1 (rs662), while the CYP2C19*3 variant was not detected in our study. Furthermore, Hardy Weinberg equilibrium analysis was assessed as well as a comparison between Puerto Rico and other reference populations using a Z-test for proportions. Conclusion The observed allele and genotype frequencies on these relevant pharmacogenes in Puerto Ricans were more closely related to those early reported in two other reference populations of Americans (Mexicans and Colombians).

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“…Recently, we have published a physiogenomic analysis to infer structure and ancestry in the Puerto Rican population [21]. The Puerto Rican sample was found to be broadly heterogeneous, with three main clusters reflecting the historical admixture from Amerindian, African, and European ancestors.…”

Section: Introductionmentioning

confidence: 99%

CYP2C9 and VKORC1 genotypes in Puerto Ricans: A case for admixture-matching in clinical pharmacogenetic studies

Villagra

Ducongé

Windemuth

et al. 2010

Clinica Chimica Acta

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Backgrounds-Admixture is of great relevance to the clinical application of pharmacogenetics and personalized medicine, but unfortunately these studies have been scarce in Puerto Ricans. Besides, allele frequencies for clinically relevant genetic markers in warfarin response (i.e., CYP2C9 and VKORC1) have not yet been fully characterized in this population. Accordingly, this study is aimed at investigating whether a correlation between overall genetic similarity and CYP2C9 and/or VKORC1 genotypes could be established.

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Physiogenomic Analysis of the Puerto Rican Population

Cited by 23 publications

References 49 publications

Pharmacogenetics of drug-metabolizing enzymes in US Hispanics

Pharmacogenetics of drug-metabolizing enzymes in US Hispanics

Frequencies of Functional Polymorphisms in Three Pharmacokinetic Genes of Clinical Interest within the Admixed Puerto Rican Population

CYP2C9 and VKORC1 genotypes in Puerto Ricans: A case for admixture-matching in clinical pharmacogenetic studies

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