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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Citations
Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319
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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Cited by
Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders
Ernst, T., Chase, A. J., Score, J., Hidalgo-Curtis, C. E., Bryant, C., Jones, A. V., Waghorn, K., Zoi, K., Ross, F. M., Reiter, A., et al. (2010) · Nature Genetics · doi:10.1038/ng.621 · Cited by 1,139
Self-citationJAKs and STATs in immunity, immunodeficiency, and cancer
O'Shea, J. J., Holland, S. M., & Staudt, L. M. (2013) · New England Journal of Medicine · doi:10.1056/nejmra1202117 · Cited by 927
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
Bick, A. G., Weinstock, J. S., Nandakumar, S. K., Fulco, C. P., Bao, E. L., Zekavat, S. M., Szeto, M. D., Liao, X., Leventhal, M. J., Nasser, J., et al. (2020) · Nature · doi:10.1038/s41586-020-2819-2 · Cited by 733
JAK/STAT signaling in hematological malignancies
Vainchenker, W., & Constantinescu, S. N. (2013) · Oncogene · doi:10.1038/onc.2012.347 · Cited by 528
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
Loh, P.-R., Genovese, G., Handsaker, R. E., Finucane, H. K., Reshef, Y. A., Palamara, P. F., Birmann, B. M., Talkowski, M. E., Bakhoum, S. F., McCarroll, S. A., et al. (2018) · Nature · doi:10.1038/s41586-018-0321-x · Cited by 423
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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