ArticleResearch and practice in thrombosis and haemostasis2022
Risk factors for inhibitors in hemophilia A based on RNA-seq and DNA methylation.
Article in Research and practice in thrombosis and haemostasis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- The Epigenetic Landscape of Hemophilia.Current molecular medicine · 2026Review
- Single-cell sequencing on PBMCs from patients with HA and HB with inhibitors reveals different immune responses to FVIII and FIX.Blood advances · 2025Article
- Effect of DNA methylation on inhibitor development in people with hemophilia A treated with FVIII concentrates.Research and practice in thrombosis and haemostasis · 2025Article
- [Chinese guidelines on the diagnosis and management of hemophilia with inhibitors (2023)].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2023Article
- Risk factors for inhibitors in hemophilia A based on RNA-seq and DNA methylation.Research and practice in thrombosis and haemostasis · 2022Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
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Abstract
Background: The development of factor VIII (FVIII) inhibitor is a severe complication during replacement therapy for hemophilia A patients. Objectives: We investigated the potential risk factors for FVIII inhibitor formation based on genome-wide RNA-sequencing and whole-genome bisulfite sequencing analysis. Methods: RNA-sequencing and whole-genome bisulfite sequencing analysis were applied on 17 blood samples with Results: Altogether, 344 mRNA transcripts and 20 long noncoding RNAs (lncRNA) transcripts were differentially expressed. Among the differentially expressed transcripts, 200 mRNAs and 12 lncRNAs were upregulated, and 144 mRNAs and eight lncRNAs were downregulated. Gene ontology enrichment analysis of differentially expressed mRNAs showed that genes involved in immune stimulation, especially those for T-cell activation, were upregulated, whereas genes involved in negative immune response regulation were downregulated. Coexpression analysis revealed that the targeted upregulated genes of differentially expressed lncRNA were similarly closely related to immune activation, especially T-cell activation. Methylation analysis showed inhibitor patients exhibited a slightly lower methylation status in the CpG islands, 5' untranslated region, and exon regions ( Conclusions: There is an upregulation of genes involved in activation of the immune system in hemophilia A patients with inhibitors. The lncRNA and methylation modifications may play important roles in inhibitor production. These findings are potentially to reveal novel therapeutic targets for prevention and treatment of inhibitors.
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