Frequency of Estrogen Receptor-1 (ESR-1) Gene Polymorphism (PvuII and XbaI) in Patients with Coronary Artery Disease

Abstract

Sex hormones might be viewed as biomarkers for cardiovascular health status, as well as protective agents against heart diseases. Coronary artery disease (CAD) is the most common disease in humans and has a complex etiology. In this study, we aimed to investigate the association of CAD with ESR1 PvuII and XbaI gene mutation frequencies and to see if it's important as a genetic risk factor and the susceptibility for CAD in Tanta region, Egypt. By polymerase chain reaction with restriction fragment length polymorphism (PCR- RFLP), we determined the frequency of the ESR1 gene polymorphisms in 110 healthy and 100 CAD sample. Results revealed that there were no significant differences between CAD patients and the control group as regard the frequency AA, AG and GG of XbaI genotype. PvuII genotype frequencies were TT, TC and CC with no significant value. Regarding allele frequencies of PvuII and XbaI polymorphism, they were not statistically important. There was no significant difference among all studied subjects regarding sex, age, menopausal status, cardiac complications and lipid profile, but there was highly significant differences regarding the body mass index. In conclusion, estrogen receptor alpha gene polymorphism Pvu II and XbaI site are not associated with the coronary artery disease.