ArticleClinical and translational allergy2025
Next Generation Sequencing of Genes With Epigenetic Alterations in Mastocytosis.
Article in Clinical and translational allergy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Next Generation Sequencing of Genes With Epigenetic Alterations in Mastocytosis.Clinical and translational allergy · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
aimMastocytosis is a neoplastic disease of the bone marrow associated with the risk of frequent and severe allergic reactions. However, the genetic predisposition is not fully understood, and the crucial element in pathogenesis is the presence of the oncogenic KIT p. D816 V gene mutation. The epigenetic mechanism has also been suggested as playing a role in mastocytosis.
objectiveBased on our previous epigenetic studies, we have selected 110 candidate genes which were sequenced by next generation sequencing (NGS) to identify somatic mutations.
methodThe study group consisted of 32 patients with mastocytosis (16 females and 16 males) plus 16 controls (8 females and 8 males). Whole peripheral blood was collected from all the subjects and genotyped by NGS on the Illumina platform (targeted sequencing).
resultsWe analysed 4272 genetic variations in the pre-selected candidate genes and found five regions that showed a significant difference between the patient and control group. Two of them were found in the TET2 gene located on chromosome 4 and the other three alterations were found in the genes DNMT3A, SETD2 and BRD4 located on chromosomes 2, 3 and 19, respectively. Two out of the five genetic variants have not been previously reported, despite the fact that all four genes have been described to be associated with mastocytosis.
conclusionsThe results align with our previous findings, which determined TET2, DNMT3A, SETD2 and BRD4 genes as promising candidates for further analysis, warranting future study in a larger cohort of mastocytosis patients.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.