ArticleNature genetics2009
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.
Article in Nature genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 199 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
199 citing papers in PubMed, 1 synthesis or guideline pooled it, 381 citations in OpenAlex.
- JAK2 rs10974944 is associated with both V617F-positive and negative myeloproliferative neoplasms in a Vietnamese population: A potential genetic marker.Molecular genetics & genomic medicine · 2022Pooled it
- JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Japanese patients.International journal of hematology · 2013Trial
- The JAK2 46/1 haplotype is a risk factor for myeloproliferative neoplasms in Chinese patients.International journal of hematology · 2012Trial
- The prognostic impact of germline 46/1 haplotype of Janus kinase 2 in cytogenetically normal acute myeloid leukemia.Haematologica · 2011Trial
- Trial
- Molecular Response, Event-Free Survival, and Treatment-Free Remission in Myeloproliferative Neoplasms: Update and Review with Insights from MPN Asia 2026.Current hematologic malignancy reports · 2026Review
- Risk of Myeloproliferative Neoplasms in Patients With Inflammatory Bowel Disease and Impact on Outcomes: A Multi-Centre Matched Analysis.Alimentary pharmacology & therapeutics · 2026Observational
- Homozygosity of germ lineBlood neoplasia · 2026Article
- Clinical and Pharmacogenetic Factors Associated with Response to JAK Inhibitors in Patients with Rheumatoid Arthritis: A Real-World Study ofPharmaceutics · 2026Article
- Beyond the JAK2 mutation: The inflammasome, clonal stability, and the thrombotic niche in myeloproliferative neoplasms.Clinical and experimental medicine · 2026Review
- A stem and progenitor cell-derived gene expression signature is prognostic for survival in myelofibrosis.Blood · 2026Article
- Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.Blood cancer journal · 2026Article
- Characterization of JAK2V617F and the JAK2 46/1 germline haplotype in myeloproliferative neoplasms in a Saudi Arabian cohort: a case-based analysis.Frontiers in oncology · 2026Article
- Impact of Germline DNA Repair Mutations on Clonal Hematopoiesis and Myeloid Neoplasm Development.Current hematologic malignancy reports · 2025Review
- JAK2 46/1 (GGCC) Haplotype in Oncogenesis, as Risk Stratifier, and Indicator for Drug Resistance in Myeloproliferative Neoplasms.International journal of molecular sciences · 2025Review
- Article
- Polycythaemia vera.Nature reviews. Disease primers · 2025Review
- Evolution of myeloproliferative neoplasms from normal blood stem cells.Haematologica · 2025Review
- High Mobility Group A1 Chromatin Keys: Unlocking the Genome During MPN Progression.International journal of molecular sciences · 2025Review
- Variance quantitative trait loci reveal gene-gene interactions which alter blood traits.medRxiv : the preprint server for health sciences · 2024Article
139 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 8 institutions in 4 countries.
Funding
Abstract
Chronic myeloproliferative neoplasms (MPNs) are a group of related conditions characterized by the overproduction of cells from one or more myeloid lineages. More than 95% of cases of polycythemia vera, and roughly half of essential thrombocythemia and primary myelofibrosis acquire a unique somatic 1849G>T JAK2 mutation (encoding V617F) that is believed to be a critical driver of excess proliferation. We report here that JAK2(V617F)-associated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1, in all three disease entities compared to healthy controls (polycythemia vera, n = 192, P = 2.9 x 10(-16); essential thrombocythemia, n = 78, P = 8.2 x 10(-9) and myelofibrosis, n = 41, P = 8.0 x 10(-5)). Furthermore, JAK2(V617F) specifically arises on the 46/1 allele in most cases. The 46/1 JAK2 haplotype thus predisposes to the development of JAK2(V617F)-associated MPNs (OR = 3.7; 95% CI = 3.1-4.3) and provides a model whereby a constitutional genetic factor is associated with an increased risk of acquiring a specific somatic mutation.
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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.