Balkan Journal of Medical Genetics

ASSOCIATION OF CYP2C19*2 C.681G>A (RS4244285) LOSS-OF-FUNCTION ALLELE WITH CARDIOVASCULAR DISEASE RISK IN THE KOSOVO POPULATION
Elshani N1*, Ukella K1, Staninova Stojovska M2, Naumovska Z2, Kurshumliu M3, Gorani D4, Kapedanovska Nestorovska A
*Corresponding Author: Corresponding Author: Nora Elshani, Glloku te Shelgjet “Veternik” 10000-Prishtinë, Kosova. Phone: +38344601032. E-mail: nora.elshani1@gmail.com; nora.elshani@rezonanca-rks.com.
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Abstract

The CYP2C19*2 c.681G>A (rs4244285) loss-of- function (LOF) allele has been associated with reduced clopidogrel efficacy and increased risk of major adverse cardiovascular events (MACE). PGx-guided treatment, despite the recommendations, is not fully implemented in routine clinical practice. The primary aim of this hybrid retrospective-prospective study was to determine whether identifying CYP2C19 LOF patients may benefit the anti- platelet drug prescribing decisions made in Kosovo. The study cohort consisted of clopidogrel treated patients pre- senting at the University Clinical Center in the period from December 2023 to May 2024. To evaluate the correla- tion between CYP2C19 LOF and the treatment outcome in a follow‐up period of 2 years, we first assessed the CYP2C19*2 genotype using the Taq Man Real Time PCR method. Among 150 patients, 58 (19.33%) were identified as carriers CYP2C19*2 LOF allele. The observed allele distribution was significantly different when compared with the one reported for a healthy Kosovar population (13.03%). CYP2C19*2 LOF carriers exhibited a 1.6-fold higher probability of developing cardiovascular disease compared to non-carriers, based on allelic and codominant model of statistical analysis (OR=1.60; 95% CI=1.08-2.37; p=0.018 and OR=1.64; 95% CI=1.04-2.57; p=0.031, re- spectively). The median observation time of follow up was not reached until this analysis was conducted. Our data supports the potential association of the CYP2C19*2 LOF allele with an increased risk for CVD in the population of Kosovo. Our data add to the evidence advising careful consideration of CYP2C19 genetic diversity when recom- mending PGx-guided clopidogrel therapy, particularly in populations, such the Kosovar, where genetic determinants are not yet fully elucidated.

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