THE ROLE AND POTENTIAL SIGNIFICANCE OF THE G 84A POLYMORPHISM IN THE NOS1 GENE IN CHRONIC MYELOPROLIFERATIVE NEOPLASMS

Abstract

Background: Chronic myeloproliferative neoplasms (CMPNs) are clonal hematopoietic disorders characterized by overproduction of one or more myeloid lineages, driven by somatic mutations and modulated by the inflammatory microenvironment. Nitric oxide (NO), a key regulator of vascular tone, reactive nitrogen species, and signal transduction, is synthesized by nitric oxide synthases (NOS). Among them, neuronal NOS (NOS1) is classically expressed in neural tissues, but extra‑neuronal roles in hematopoiesis and inflammation are plausible. A putative promoter polymorphism G‑84A (i.e. at –84 base pairs upstream of the transcription start site) in NOS1 might alter gene expression and thereby influence disease risk or phenotype in CMPNs.