title: Frequencies of Functional Polymorphisms in Three Pharmacokinetic Genes of Clinical Interest within the Admixed Puerto Rican Population.
abstract: OBJECTIVE
  This cross-sectional study was aimed at determining the allele frequencies for theCYP2C19*2, CYP2C19*3, CYP2D6*10andPON1(rs662) polymorphisms in the Puerto Rican population. TheCYP2C19, CYP2D6andPON1genes 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.
  
  
  METHODS
  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% forCYP2C19*2andCYP2D6*10,50% forPON1(rs662), while theCYP2C19*3variant 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.
  
  
  CONCLUSIONS
  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).
authors.affiliation: Department of Biochemistry, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico, USA.
authors.forename: Carmelo
authors.initials: C
authors.lastname: Orengo-Mercado
authors.forename: Bianca
authors.initials: B
authors.lastname: Nieves
authors.forename: Lizbeth
authors.initials: L
authors.lastname: López
authors.forename: Nabila
authors.initials: N
authors.lastname: Vallés-Ortiz
authors.forename: Jessicca Y
authors.initials: JY
authors.lastname: Renta
authors.forename: Pedro J
authors.initials: PJ
authors.lastname: Santiago-Borrero
authors.forename: Carmen L
authors.initials: CL
authors.lastname: Cadilla
authors.forename: Jorge
authors.initials: J
authors.lastname: Duconge
keywords: CYP2C19; CYP2D6; Genotyping; Guthrie filter cards; PON1; Personalized medicine; Pharmacogenetics; Prevalence; Taqman®
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