Investigation of Osteoprotegerin Gene polymorphisms and Serum level as a predictive marker of cardiac abnormalities in beta thalassemia major

Abstract Background Osteoprotegrin is a protein which Prevents excessive bone resorption by binding to the relevant receptor and its genetic variations may contribute to the development of heart disorders. Materials and Methods Eighty-two beta-thalassemia major patients of Sorour medical center of Mashhad, Iran who were older than 11 years old enrolled for the study. Two dimensional and M-mode echocardiography analysis were done in all patients. Sequencing for OPG rs2073617 (950T > C), rs2073618 (1181G > C)] polymorphisms was done using the Sanger method. Serum OPG levels estimated by ELISA. Results Mean age of patients was 23.62 ± 6.92 years. LVH and diastolic dysfunction was present in 34 (41.5%) and 36 (43.9%) patients, respectively. Thalassemia patients with OPG rs2073617, OPG rs2073618 SNPs were at high risk for LVH and diastolic dysfunction as suggested by high odds ratio of 29% and 31%, respectively. Serum OPG levels also were found significantly higher in thalassemia patients with LVH and diastolic dysfunction (P = 0.001). Conclusions OPG rs2073617, rs2073618 SNPs may predispose LVH and diastolic dysfunction in thalassemia patients. Patients with LVH and diastolic dysfunction showed increased levels of serum OPG.