Objective: To evaluate the impact of allele and genotype variants of the Pro72Arg (rs1042522) polymorphism of the TP53 gene on the development of myeloproliferative neoplasms (MPNs). Materials and methods: The study involved 110 patients with clinically and genetically confirmed cases of Рh-positive and Рh-negative MPNs, examining the role of the Pro72Arg (rs1042522) polymorphism of the TP53 gene in the development and prognosis of MPNs. Among them, 34 patients (CML – 26, IP – 7, IT-1) resided in ecologically unfavorable regions of the Khorezm region near the Aral Sea (Group I), and 76 patients (CML – 40, IP – 24, IT – 10, PMF – 2) lived in relatively favorable areas within the Khorezm region (Group II). DNA samples from 105 unrelated healthy individuals of Uzbek ethnicity were used as controls. Results: The results showed that the Pro allele is associated with an increased likelihood of developing diseases, while the high frequency of the Arg allele in the control group suggests a protective effect (χ² = 12.4; p = 0.01). The Pro/Pro genotype was significantly common in patients from unfavorable regions of Xorezm region (χ2=5.6; p=0.03; RR=3.6; 95%CI: 1.05-12.38;), statistical indicators of this genotype indicate its potential association with an increased risk of the disease, the presence of which increases the risk of developing MPN by more than 4 times (OR=4.2; 95%CI:1.27-13.57); whereas the Pro/Arg genotype (χ² = 5.9; p = 0.03) was significantly associated with an increased risk of disease, raising the risk of developing MPNs by more than 2 times (OR = 2.1; 95% CI: 1.15-3.77). The Arg/Arg genotype (χ² = 11.1; p = 0.01), on the other hand, was associated with a protective effect, with its high frequency in the control group confirming its role as a factor that reduces the risk of disease.
| Mualliflar | Zhumaboeva, Marguba, Boboev, Kodirjon, Matmurodov, Rustambek, Zhumanazarova, Shahzoda, Жумабоева, Марғуба, Бобоев, Кодиржон, Матмуродов, Рустамбек, Жуманазарова, Шахзода, Jumaboeva, Marguba, Boboev, Qodirjon, Matmurodov, Rustambek, Zhumanazarova, Shahzoda |
|---|---|
| Jurnal | Medical science of Uzbekistan / O'zbekiston tibbiyot ilmi |
| Nashr sanasi | 2025-04-30 |
| Jild | 4 |
| Son | 2 |
| Betlar | 74-79 |
| Til | Rus |
| DOI | 10.56121/2181-3612-2025-2-74-79 |
DOI: 10.56121/2181-3612-2025-2-74-79 · Maqolaning asl sahifasi
Pro72Arg polymorphism of the TP53 gene, rs1042522, MPN, molecular genetics, gene mutations and cancer, prognosis of myeloproliferative disorders, полиморфизм Pro72Arg гена TP53, rs1042522, МПН, молекулярная генетика, генные мутации и рак, прогнозирование миелопролиферативных расстройств, TP53 genining Pro72Arg polimorfizmi, rs1042522, MPN, molekulyar genetika, gen mutatsiyalari va saraton, mieloproliferativ kasalliklar prognozi
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