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Expression Of Variability Of The Cyp2C19*2 Gene In Patients With Acute Myocardial Infarction From A South American Hospital And Its Future Relevance In The Interaction Between Genetics And Cardiology.

Dulcey, L. A.; Theran, J.; Gomez, J.; Parales, R.; Amaya, M.; Cabrera, V.; Blanco, E.; Ciliberti, M.; Martinez, J.; Caltagirone, R.

2023-08-20 genetic and genomic medicine
10.1101/2023.08.18.23294282 medRxiv
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IntroductionSome Polymorphisms of the CYP2C19 gene are associated with a decrease in the activity of the enzyme they encode, being the case of CYP2C19*2 in causing a lower generation of active metabolite of clopidogrel and therefore a low or null antiplatelet action depending on the genotype present. Antiplatelet therapy, mainly clopidogrel, is considered essential treatment in the management of acute coronary syndromes (ACS). TargetThe frequency of the CYPC19*2 polymorphism, identified as relevant in resistance to clopidogrel, is unknown in the population of this part of South America. MethodsA descriptive, observational and cross-sectional study was designed to determine the frequency of the CYP2C19*2 allele in patients with ACS admitted to a South American hospital during the period between 2015-2016, being the first study to determine polymorphism in our population. fifty-nine adults patients diagnosed with ACS were included, 48 male (81.3%) and 11 female (18.7%), aged between 54 and 86 years. The genotype for the CYP2C19 gene was determined through the PCRRFLP (Restriction Fragments Length Polymorphism) technique from DNA extracted desde peripheral blood . ResultsThe allelic frequency of the CYP2C19*2 polymorphism was 28.5%. Three subgroups of metabolizers were characterized : extensive (*1/*1) 40 (67.8%), intermediate (*1/*2) 17 (28.9%) and poor (*2/*2) 2 (3.3%). ConclusionsThis high number of carriers of the CYP2C19*2 polymorphism in the context of ACS is relevant due to its association with a lower responsiveness to clopidogrel and the possible involvement in the choice of antiplatelet therapy, for which characterization studies are required most appropriate to identify the best therapeutic strategies in our populations through pharmacogenomics.

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