Investigation of RS7127129, RS2509153 polymorphysms in ANO1 gene in the etiology of idiopatic pulmonary arterial hypertension

Introduction: Pulmonary Arterial Hypertension (PAH) is a rare pathophysiological disorder that develops due to many causes and some gene polymorphisms are also responsible. Recently, genetic variations of ANO-1 have attracted the attention of many researchers. Studies have shown that a protein encoded by the ANO-1 gene plays an important role in the pathophysiological process in pulmonary hypertension. Aim: In this study, it was aimed to compare the rs7127129 and rs2509153 polymorphisms in the ANO-1 gene with the control group by taking blood samples from patients diagnosed with idiopathic pulmonary arterial hypertension (IPAH), congenital heart disease (CHD), chronic thromboembolic pulmonary hypertension (CTEPH). Method: 106 patients with IPAH, 40 patients with CHD and 30 patients with CTEPH who were followed up in the Cardiology Clinic of Fırat University Hospital in 2022 with the diagnosis of pulmonary hypertension and approved to participate in the study were included in our study. 125 age and sex-matched healthy volunteers who did not have pulmonary hypertension in themselves or in their families were taken as the control group. Results: In the study, 79% of the patients were female and the mean age was 58 years. It was determined that there was no statistically significant relationship between rs2509153 and rs7127129 gene polymorphisms and control group and patient group. (p>0.05) The difference observed between the control group and the CHD group in terms of rs7127129 was found to be statistically significant (p<0.05). In the analysis performed after exclusion of hypertension patients, it was observed that the statistical significance of rs2509153 and rs7127129 polymorphisms continued in the congenital heart disease group and the control group (p<0.05). Conclusion: In the study, as a result of investigating the polymorphisms of rs7127129 and rs2509153 in the ANO-1 gene in IPAH, CHD, CTEPH, and in the control group, no significant relationship was found in patients with IPAH and CTEPH. It has been determined that there is a significant relationship in the CHD group, investigating the mutations in the ANO-1 gene in a larger sample group in CHD will make a great contribution to the literature. Key Words: Idiopathic Pulmonary Hypertension, Congenital Heart Disease, ANO-1 rs2509153 polymorphism, rs712712 polymorphism.