ArticleNature genetics2009
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive 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 184 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
184 citing papers in PubMed, 2 syntheses or guidelines pooled it, 343 citations in OpenAlex.
- PASTRY: achieving balanced power for detecting risk and protective minor alleles in meta-analysis of association studies with overlapping subjects.BMC bioinformatics · 2024Pooled it
- 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
- A randomized dose-escalation study to assess the safety, tolerability, and pharmacokinetics of ruxolitinib (INC424) in healthy Japanese volunteers.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
- Homozygosity of germ lineBlood neoplasia · 2026Article
- [Clinical features ofZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- A stem and progenitor cell-derived gene expression signature is prognostic for survival in myelofibrosis.Blood · 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
- Article
- 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
- JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.Blood advances · 2025Article
- Two Novel Genetic Variants Involved in the Oxygen Sensing Pathway in JAK2-unmutated Erythrocytosis.Biochemical genetics · 2025Article
- Evolution of myeloproliferative neoplasms from normal blood stem cells.Haematologica · 2025Review
- Germinal pathogenic CHEK2, novel APC and somatic JAK2V617F variants in a young patient with colorectal cancer, atypical leukemia, cerebral tumour and aggressive course.Ecancermedicalscience · 2025Article
124 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
Abstract
Polycythemia vera, essential thrombocythemia and primary myelofibrosis are myeloproliferative neoplasms (MPN) characterized by multilineage clonal hematopoiesis. Given that the identical somatic activating mutation in the JAK2 tyrosine kinase gene (JAK2(V617F)) is observed in most individuals with polycythemia vera, essential thrombocythemia and primary myelofibrosis, there likely are additional genetic events that contribute to the pathogenesis of these phenotypically distinct disorders. Moreover, family members of individuals with MPN are at higher risk for the development of MPN, consistent with the existence of MPN predisposition loci. We hypothesized that germline variation contributes to MPN predisposition and phenotypic pleiotropy. Genome-wide analysis identified an allele in the JAK2 locus (rs10974944) that predisposes to the development of JAK2(V617F)-positive MPN, as well as three previously unknown MPN modifier loci. We found that JAK2(V617F) is preferentially acquired in cis with the predisposition allele. These data suggest that germline variation is an important contributor to MPN phenotype and predisposition.
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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.