THE ROLE OF SOD2 GENE ALA16VAL POLYMORPHISM IN THE DEVELOPMENT OF MYELOPROLIFERATIVE NEOPLASIA IN KHOREZM REGION

Abstract

Objective: To assess the influence of allelic and genotypic variants of the Ala16Val polymorphism in the SOD2 gene on the development of myeloproliferative neoplasms (MPNs).

Materials and methods:  A study was conducted on 110 patients with clinically and genetically confirmed Ph-positive and Ph-negative MPNs to investigate the role of the SOD2 gene Ala16Val polymorphism in the development and prognosis of MPN clinical course. Of these, 34 patients (CML – 26, ET – 7, PMF – 1) resided in unfavorable regions of the Khorezm region (Group I) and 76 patients (CML – 40, ET – 24, PMF – 10, PV – 2) resided in relatively favorable regions of the republic, including the Khorezm region (Group II).  DNA samples from 105 unrelated ethnically Uzbek healthy controls were used.  (Note:  Abbreviations like CML, ET, PMF, PV need to be defined in the methods section or in a table).

Results: Statistical data suggest a potential association between the alleles (χ²=3.9; p=0.05) of the Ala16Val polymorphism in the SOD2 gene and the development of myeloproliferative neoplasms. The Ala allele plays a protective role in the development of MPNs, while the Val allele plays a pathogenic role; the presence of the Val allele indicates an increased risk of the disease. The mutant homozygous Val/Val genotype increases the risk of developing MPNs in patients from unfavorable regions more than twofold (χ²=4.0; p=0.05; =2.4; 95% CI: 1.02-5.57).

The p-values are borderline significant.  The confidence intervals for the relative risk and odds ratio are quite wide, suggesting a need for larger sample sizes to confirm these findings.  The abbreviations for the MPN subtypes should be clearly defined (e.g., CML = Chronic Myelogenous Leukemia, ET = Essential Thrombocythemia, PMF = Primary Myelofibrosis, PV = Polycythemia Vera).