Egyptian Journal of Medical Human Genetics · Published 2026-06-11 · DOI 10.1186/s43042-026-00871-3
Elham Pourrahim, Zahra Badiei, Hassan Mottaghi moghaddam shahri, Elham Mahmoudi, Mohammad Reza Keramati, hossein Ayatollahi, Fateme seyedmoharrami, Maryam sheikhi
Abstract Background Osteoprotegerin (OPG) is a protein that prevents excessive bone resorption by binding to its receptor, and its genetic variations may contribute to the development of cardiovascular disorders. 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 were present in 34 (41.5%) and 36 (43.9%) patients, respectively. Thalassemia patients carrying the OPG rs2073617 and rs2073618 polymorphisms exhibited an increased risk of left ventricular hypertrophy (LVH) and diastolic dysfunction, as reflected by higher odds ratios. Specifically, for rs2073617, the CC genotype was associated with a markedly elevated risk (OR: 4.51). Moreover, serum OPG levels were significantly higher in patients with LVH and diastolic dysfunction, with odds ratios of 1.64 and 1.58, respectively (P < 0.001), highlighting a strong association between elevated OPG and cardiac abnormalities in these patients. Conclusion 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.
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Pourrahim, E., Badiei, Z., shahri, H., et al. (2026). Investigation of osteoprotegerin gene polymorphisms and serum level as a predictive marker of cardiac abnormalities in beta thalassemia major. Egyptian Journal of Medical Human Genetics. https://doi.org/10.1186/s43042-026-00871-3