The effect of endothelin-1 gene polymorphism on cerebrovascular diseases

The aim of the present study was to investigate the association between cerebrovascular diseases and Lys198Asn and rs10478694 polymorphism of Endothelin-1 gene in the patients diagnosed with cerebrovascular diseases. Totally 100 patients with cerebrovascular diseases and 100 healthy controls were included the study. Blood samples were obtained from all cases within 1 hour after emergency department application. The blood samples were isolated and obtained DNAs were studied for Lys198Asn and rs10478694 polymorphism of EDN1 by PCR method. 54 were men (54%) and 46 were women (46%) of 100 cases with the mean age of 71,73±10,61 (range; 49-93) from patient group. 67 were men (67%) and 33 were women (33%) of 100 cases with the mean age of 65,77±7,34 (range; 47-85). There was no difference for age and gender between groups. The rate of alcohol and smoke usage were similar. The most commonly seen comorbidities were hypertension (70%), coronary artery disease (34%) and diabetes mellitus (28%) in the patient group. The most frequently observed application complaints of patients were loss of strength in the arm and leg and speech disorder. The mean Glasgow Coma Scale score was 13,82±1,87. 78 patients had hemiparesis, 52 had dysphasia, 25 had aphasia and 17 had facial paralysis. It was determined that 41 cases from patient group and 38 cases from control group were carrier for Lys198Asn and 39 cases from patient group and 39 cases from control group were carrier for rs10478694. There was Lys198Asn polymorphism in 8 cases from patient group and 9 cases from control group. Similarly, rs10478694 polymorphism was detected in 9 cases from patient group and 7 cases from control group. There was no significant age and gender difference in the cases with or without polymorphism. Also, no association was found between smoke and alcohol usage, hypertension, diabetes mellitus, coronary artery disease, chronic obstructive liver disease and positivity of gene polymorphism. As a conclusion, no correlation was determined between cerebrovascular diseases and Lys198Asn and rs10478694 polymorphism of Endothelin-1 gene. Keywords: Cerebrovascular disease, Endothelin-1, Gene polymorphism.