ASSOCIATION OF RS1333049 POLYMORPHISM ON 9p21 LOCUS WITH CORONARY ARTERY DISEASE IN ALBANIAN PATIENTS

Ariol Rama, Mynyr Koni

Abstract

An association between rs1333049 polymorphism on Chr9p21 and coronary artery disease (CAD) has been reported in multiple studies. Rising trends in coronary heart disease in Albania requires in-depth analysis of socio-economic as well as genetic factors. The purpose of this study was to investigate the association between rs1333049 variant and the presence of CAD in Albanian patients. This was a case-control study involving 177 patients who underwent coronary angiography at the cardiology department at Hygeia Hospital in Tirana, Albania. Patients were divided into two groups; CAD and no-CAD, based on severity and the number of atherosclerotic lesions. Genotypes were determined by allele specific polymerase chain reaction. Allelic and genotype frequencies were determined and tested against Hardy-Weinberg equilibrium. Odds ratio (ORs) and 95% CI were analyzed by logistic regression for p <0.05. The risk associated with rs1333049 polymorphism and CAD was evaluated and adjusted for risk factors. We replicated rs1333049 C-allele association with CAD (OR=1.71 [95%CI: 1.10-2.66], p=0.0165). In addition, under recessive model of inheritance, and after adjustment for covariates, we observed an association of the homozygous genotype (CC) of rs1333049 with coronary artery disease (OR adjusted=2.22 [95%CI: 1.09 – 4.54], p=0.02278). Similarly, under log-additive model of inheritance, homozygous carriers of rs1333049 C-allele were associated with increased risk of CAD (OR adjusted= 1.81 [95% CI; 1.12 – 2.94], p= 0.01360). Our results provide substantial evidence for the association of rs1333049 polymorphism with CAD in Albanian patients. Furthermore, CAD risk conferred by C-allele of rs1333049 polymorphism in our study was higher than the reported association of the risk allele-C with CAD in Caucasians of European origin. These results have significant importance in the light of increased incidence of coronary artery disease in Albania.

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