The role of SOD2 gene ALA16VAL polymorphism in the development of myeloproliferative neoplasia in Khorezm region

Jumaboeva, Marjuba, Boboev, Kodirjon, Matmurodov, Rustambek, Jumanazarova, Shaxzoda, Жумабоева, Марғуба, Бобоев, Кодиржон, Матмуродов, Рустамбек, Жуманазарова, Шахзода, Jumaboeva, Margʼuba, Boboev, Kodirjon, Matmurodov, Rustambek, Jumanazarova, Shaxzoda

Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi · 2025-yil

Annotatsiya

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).

Maqola ma’lumotlari
MualliflarJumaboeva, Marjuba, Boboev, Kodirjon, Matmurodov, Rustambek, Jumanazarova, Shaxzoda, Жумабоева, Марғуба, Бобоев, Кодиржон, Матмуродов, Рустамбек, Жуманазарова, Шахзода, Jumaboeva, Margʼuba, Boboev, Kodirjon, Matmurodov, Rustambek, Jumanazarova, Shaxzoda
JurnalMedical science of Uzbekistan / O'zbekiston tibbiyot ilmi
NashriyotАндижон давлат тиббиёт институти
ISSN2181-3612
Nashr sanasi2025-08-28
Jild4
Son4
Betlar11-15
TilIngliz
Ilmiy sohaTibbiyot
DOI10.56121/2181-3612-2025-4-11-15
Indeksga qo‘shilgan2026-08-26

Kalit so‘zlar

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

Ilmiy soha

Iqtibos keltirish

APAJumaboeva, Marjuba, Boboev, Kodirjon, Matmurodov, Rustambek, Jumanazarova, Shaxzoda, Жумабоева, Марғуба, Бобоев, Кодиржон, Матмуродов, Рустамбек, Жуманазарова, Шахзода, Jumaboeva, Margʼuba, Boboev, Kodirjon, Matmurodov, Rustambek, & Jumanazarova, Shaxzoda (2025). THE ROLE OF SOD2 GENE ALA16VAL POLYMORPHISM IN THE DEVELOPMENT OF MYELOPROLIFERATIVE NEOPLASIA IN KHOREZM REGION. Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(4), 11-15. https://doi.org/10.56121/2181-3612-2025-4-11-15
GOST (OAK)Jumaboeva, Marjuba va b. THE ROLE OF SOD2 GENE ALA16VAL POLYMORPHISM IN THE DEVELOPMENT OF MYELOPROLIFERATIVE NEOPLASIA IN KHOREZM REGION // Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi. – 2025. – T. 4, № 4. – P. 11-15. – DOI: 10.56121/2181-3612-2025-4-11-15.
MLAJumaboeva, Marjuba, Boboev, Kodirjon, Matmurodov, Rustambek, Jumanazarova, Shaxzoda, Жумабоева, Марғуба, Бобоев, Кодиржон, Матмуродов, Рустамбек, Жуманазарова, Шахзода, Jumaboeva, Margʼuba, Boboev, Kodirjon, Matmurodov, Rustambek, and Jumanazarova, Shaxzoda. “THE ROLE OF SOD2 GENE ALA16VAL POLYMORPHISM IN THE DEVELOPMENT OF MYELOPROLIFERATIVE NEOPLASIA IN KHOREZM REGION.” Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(4), 11-15, 2025. https://doi.org/10.56121/2181-3612-2025-4-11-15
ChicagoJumaboeva, Marjuba, Boboev, Kodirjon, Matmurodov, Rustambek, Jumanazarova, Shaxzoda, Жумабоева, Марғуба, Бобоев, Кодиржон, Матмуродов, Рустамбек, Жуманазарова, Шахзода, Jumaboeva, Margʼuba, Boboev, Kodirjon, Matmurodov, Rustambek, and Jumanazarova, Shaxzoda. “THE ROLE OF SOD2 GENE ALA16VAL POLYMORPHISM IN THE DEVELOPMENT OF MYELOPROLIFERATIVE NEOPLASIA IN KHOREZM REGION.” Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(4), 11-15 (2025). https://doi.org/10.56121/2181-3612-2025-4-11-15
HarvardJumaboeva, Marjuba, Boboev, Kodirjon, Matmurodov, Rustambek, Jumanazarova, Shaxzoda, Жумабоева, Марғуба, Бобоев, Кодиржон, Матмуродов, Рустамбек, Жуманазарова, Шахзода, Jumaboeva, Margʼuba, Boboev, Kodirjon, Matmurodov, Rustambek, and Jumanazarova, Shaxzoda (2025) ‘THE ROLE OF SOD2 GENE ALA16VAL POLYMORPHISM IN THE DEVELOPMENT OF MYELOPROLIFERATIVE NEOPLASIA IN KHOREZM REGION’, Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi, 4(4), 11-15. https://doi.org/10.56121/2181-3612-2025-4-11-15
BibTeX
@article{jumaboevamarjuba2025,
  title = {THE ROLE OF SOD2 GENE ALA16VAL POLYMORPHISM IN THE DEVELOPMENT OF MYELOPROLIFERATIVE NEOPLASIA IN KHOREZM REGION},
  author = {Jumaboeva, Marjuba and Boboev, Kodirjon and Matmurodov, Rustambek and Jumanazarova, Shaxzoda and Жумабоева, Марғуба and Бобоев, Кодиржон and Матмуродов, Рустамбек and Жуманазарова, Шахзода and Jumaboeva, Margʼuba and Boboev, Kodirjon and Matmurodov, Rustambek and Jumanazarova, Shaxzoda},
  journal = {Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi},
  year = {2025},
  volume = {4},
  number = {4},
  pages = {11-15},
  doi = {10.56121/2181-3612-2025-4-11-15},
  url = {https://doi.org/10.56121/2181-3612-2025-4-11-15}
}

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