The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms
Open accessAbstract
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 JAK2V617F-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 × 10−16; essential thrombocythemia, n = 78, P = 8.2 × 10−9 and myelofibrosis, n = 41, P = 8.0 × 10−5). Furthermore, JAK2V617F specifically arises on the 46/1 allele in most cases. The 46/1 JAK2 haplotype thus predisposes to the development of JAK2V617F-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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Self-citationWidespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
Jones, A. V. (2005) · Blood · doi:10.1182/blood-2005-03-1320 · Cited by 843 · cited 1×
“Clinical phenotype is clearly associated with JAK2 V617F dosage: in many PV and MF cases JAK2 V617F is reduced to homozygosity as a consequence of acquired isodisomy (generally referred to as acquired uniparental disomy; aUPD) at chromosome 9p, but this is rare in E”
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Metadata
- Authors
- Jones, A. V., Chase, A., Silver, R. T., Oscier, D., Zoi, K., Wang, Y. L., Cario, H., Pahl, H. L., Collins, A., Reiter, A., Grand, F., & Cross, N. C. P.
- Venue
- Nature Genetics
- Published
- 2009-03-15
- Volume
- 41
- Issue
- 4
- Pages
- 446-449
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2047897062
- Cited by
- 399
- References
- 3
- FWCI
- 21.41
- Type
- journal article
- Language
- en
- Open access
- green
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