SIGNIFICANCE OF SOD2 GENE C60T (C/C, C/T, T/T) POLYMORPHISM IN CHRONIC MYELOPROLIFERATIVE NEOPLASMS

Abstract

Chronic myeloproliferative neoplasms (MPNs) are a group of clonal hematologic malignancies characterized by the proliferation of hematopoietic stem cells in the bone marrow. The pathogenesis of these disorders is primarily driven by mutations in genes such as JAK2, CALR, and MPL. However, recent evidence suggests that oxidative stress and mitochondrial dysfunction also play an important role in disease biology.

The superoxide dismutase 2 (SOD2) gene encodes a key mitochondrial antioxidant enzyme responsible for detoxifying reactive oxygen species (ROS). The SOD2 C60T (rs4880, Ala16Val) polymorphism may alter mitochondrial targeting efficiency and enzymatic activity, thereby influencing oxidative stress levels.

This article reviews the potential role of C/C, C/T, and T/T genotypes of SOD2 C60T polymorphism in disease susceptibility, clinical severity, thrombotic complications, and progression of MPN.