Abstract
Background: Variations in several clopidogrel-pharmacogenes have been linked to clopidogrel response variability and clinical outcomes. We aimed to determine the frequency distribution of major polymorphisms on CYP2C19, PON1, ABCB1 and P2RY12 pharmacogenes in Puerto Ricans. Methods: This was a cross-sectional, population-based study of 200 unrelated “Guthrie” cards specimens from newborns registered in the Puerto Rican newborn screening program (PRNSP) between 2004 and 2014. Taqman® SNP assay techniques were used for genotyping. Results: Minor allele frequencies (MAF) were 46% for PON1 (rs662), 41% for ABCB1 (rs1045642), 14% for CYP2C19*17, 13% for CYP2C19*2, 12% for P2RY12-H2 and 0.3% for CYP2C19*4. No carriers of the CYP2C19*3 variants were detected. All alleles and genotype proportions were found to be in Hardy–Weinberg equilibrium (HWE). Overall, there were no significant differences between MAFs of these variants in Puerto Ricans and the general population (n = 453) of the 1000 Genome project, except when comparisons to each individual parental group were performed (i.e., Africans, Europeans and East-Asians; p < 0.05). As expected, the prevalence of these markers in Puerto Ricans most resembled those in the 181 subjects from reference populations of the Americas. Conclusions: These prevalence data provide a necessary groundwork for future clinical studies of clopidogrel pharmacogenetics in Caribbean Hispanics.
Highlights
Clopidogrel, generic for Plavix®, is commonly used to prevent atherothrombotic events in patients with cardiovascular disease
In previous studies by our group, we have partially described the frequency of polymorphisms affecting clopidogrel pharmacokinetics, but they are limited to certain common variants in CYP2C19 and PON1
Information was organized by ethno-geographic (African ancestry) and CEU (European ancestry) had Minor allele frequencies (MAF) for this variant that significantly deviated regions and includes specimens from 77 out of 78 municipalities in the Commonwealth of Puerto Rico, from that observed in Puerto
Summary
Clopidogrel, generic for Plavix® , is commonly used to prevent atherothrombotic events in patients with cardiovascular disease. The low cost and easy availability makes clopidogrel the best choice for secondary prevention of heart attack and strokes in cardiovascular patients who are at high risk for thrombotic events and ischemic complications, including those with acute coronary syndrome (ACS), stroke, peripheral artery disease (PAD), carotid stenting and cerebral endovascular interventions [1,2,3,4,5]. Significant benefits of dual antiplatelet therapy (DAPT) with aspirin have been demonstrated in large clinical trials [7,8], the occurrence of major adverse cardiovascular events (MACE) remains a serious clinical problem [9]. We aimed to determine the frequency distribution of major polymorphisms on CYP2C19, PON1, ABCB1 and P2RY12 pharmacogenes in Puerto Ricans.
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