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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RESULTS

Baseline characteristics of the 150 Kosovo patients treated with clopidogrel are summarized in Table 1. The mean age was 68 years, 78.7% of patients being older than 61 year and 40% being female. Among the patients, 43.3% presented with an ACS indication (STEMI/NSTEMI). All patients had at least one comorbidity including common conditions such as hypertension, diabetes, and dyslipi- demia. Most patients had arterial hypertension (67.3%) and 35.3% of patients presented with more than one co- morbidity. Allele, genotype, and phenotype frequencies of CY- P2C19*2 polymorphism are detailed in Table 2. A total of 34.0% of patients were CYP2C19 intermediate or poor me- tabolizers (29.33% IMs and 4.67% PMs). The frequency of CYP2C19*2 LOF allele was 19.33%. The observed genotype distributions did not significantly deviate from Hardy–Weinberg equilibrium (χ2=0.532; p=0.465). Table 3 provides a comparison of CYP2C19*2 al- lele and genotype frequencies observed in our cohort of patients with those reported for the healthy Kosovo popu- lation. According to the results, CYP2C19*2 LOF allele carriers have approximately 1.6 times higher probability for developing CVD compared to non-carriers (OR=1.6; 95% CI=1.08-2.37; p=0.018). The association between CYP2C19*2 allele and increased probability of developing CVD was further confirmed in dominant (NM vs. IM+PM) model of statistical analysis (OR=1.64; 95% CI=1.04-2.57; p=0.031) as well. Additionally, differences in the genotype/ phenotype distribution were observed between the patient and historical healthy control groups (66.0%, 29.33% and 4.67% vs 76.07%, 21.76% and 2.14% for NM, IM and PM, respectively), although these differences did not reach statistical significance (codominant analysis: p=0.067 IM, p=0.112 PM; NM as reference). The present analysis does not allow a stratified assessment of association based on age and gender, since it is based on previously published data concerning CYP2C19*2 LOF allele in healthy Kosovo population. No statistically significant difference between stratified groups of patients (according to indication for clopidogrel treatment, coexistence of one or more risk factors) with respect to a CYP2C19*2 variant allele (Table 4; all p>0.05). The median observation time of follow up was not reached until this analysis was conducted.

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