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).
| Mualliflar | Jumaboeva, Marjuba, Boboev, Kodirjon, Matmurodov, Rustambek, Jumanazarova, Shaxzoda, Жумабоева, Марғуба, Бобоев, Кодиржон, Матмуродов, Рустамбек, Жуманазарова, Шахзода, Jumaboeva, Margʼuba, Boboev, Kodirjon, Matmurodov, Rustambek, Jumanazarova, Shaxzoda |
|---|---|
| Jurnal | Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi |
| Nashr sanasi | 2025-08-28 |
| Jild | 4 |
| Son | 4 |
| Betlar | 11-15 |
| Til | Rus |
| DOI | 10.56121/2181-3612-2025-4-11-15 |
DOI: 10.56121/2181-3612-2025-4-11-15 · Maqolaning asl sahifasi
Ala/Val polymorphism, SOD2 gene, MPNs, molecular genetics, полиморфизм Ala/Val, ген SOD2, МПН, молекулярная генетика, Ala/Val polimorfizmi, SOD 2 geni, MPN, molekulyar genetika
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