eng Science and Education Publishing American Journal of Medical and Biological Research 2328-4099 2016-07-12 4 1 5 9 10.12691/ajmbr-4-1-2 AJMBR2016412 article Reham A. Mariah 1 2 Hussam Baghdadi 2 Kamal El-din Ahmed 3 Naglaa Mostafa 4 Mongi Mohamed Ahmed Ayat 4 5 Tayseer Nansour 6 7 Manal Mohamed Helmy Nabo 8 Salah Mohamed El Sayed drsalahpediatr@yahoo.com 8 9 Nassar Ayoub Abdellatif Omar 10 Department of Clinical Biochemistry and Molecular Medicine, Taibah Faculty of Medicine, Taibah University, Al-Madinah Al-Munawwarah, Saudi Arabia Department of Cardiology, Tanta Faculty of medicine, Tanta University, Egypt Department of Clinical and Chemical Pathology, National Cancer Institute, Cairo University, Egypt Department of Medical Education, Suez Canal Faculty of Medicine, Suez Canal University, Egypt Division of Pediatric cardiology, Department of Pediatrics, Maternity and Children Hospital, King Abdullah Medical City, Al-Madinah Al-Munawwarah, Kingdom of Saudi Arabia Department of Anatomy, Faculty of Medicine, Sohag University, Egypt 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. http://pubs.sciepub.com/ajmbr/4/1/2/ajmbr-4-1-2.pdf coronary artery disease estrogen receptor-1 gene allele frequency PCR-RFLP