ArticleTranslational cancer research2025
Single nucleotide polymorphism and promoter methylation analysis of protein tyrosine phosphatase 1B in patients with myeloproliferative neoplasms.
Article in Translational cancer research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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11 authors.
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Abstract
Background: The recurrent somatic mutations in genes such as Janus kinase 2 (JAK2) lead to cytokine-independent activation of the JAK-signal transducer and activator of transcription (STAT) pathway, a crucial factor in the development of classic myeloproliferative neoplasms (cMPNs). Protein tyrosine phosphatase 1B (PTP1B) is a significant regulator in this pathway, while the single nucleotide polymorphism (SNP) and promoter methylation profiles of the Methods: Bone marrow (BM) biopsies were collected from a cohort comprising 96 cMPN patients and 50 healthy controls. SNP-specific extension primers were utilized to facilitate single base extension at the SNP site. A MALDI-TOF mass spectrometer and MassARRAY Typer software were used to detected the SNP. The incidence of SNPs within Results: Our findings revealed seven coding-region SNPs, including a novel variant (g.50579818T>A). Additionally, we identified aberrant hypermethylation and hypomethylation of several CpG islands within the Conclusions: In this study, we identified a novel SNP and observed differences in the frequency of seven SNPs and hypermethylation of
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