ArticleMolecular syndromology2025
Genetic Variations in
Article in Molecular syndromology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Prior research on the genotype and allele variations of immunometabolism genes and their correlations with the risk of myeloproliferative neoplasms (MPNs) and chronic myeloid leukemia (CML) is inconsistent. Aim: This study aimed to assess the correlations between mutations in specific immunometabolism genes with the risk and progression of MPN and CML in Saudi patients. Methods: This case-control study included 244 Saudi patients, 122 patients with MPNs and CMLs, and 122 healthy controls. Immunometabolism genes, including Results: In comparison to healthy persons, MPN and CML patients exhibited a higher prevalence of genotype and allele variants in immunometabolism genes, Discussion and Conclusion: The prevailing inheritance model suggested that mutations in all four immunometabolism genes were significantly correlated with an elevated chance of developing MPNs, with increases of 1.84-, 2-, 4.28-, and 2.75-fold for BCL3, MDM4, KLF14, and miR-146a, respectively, in comparison to healthy controls. In addition, we assessed the effect of gene polymorphisms on the course of the disease, and rapid disease progression was found to be correlated with the presence of these polymorphisms. These findings could help determine the risk of developing MPNs and patient prognosis.
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