Article
The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.
Blood - 3 Jun 2010
Jones Amy V, Campbell Peter J, Beer Philip A, Schnittger Susanne, Vannucchi Alessandro M, Zoi Katerina, Percy Melanie J, McMullin Mary Frances, Scott Linda M, Tapper William, Silver Richard T, Oscier David, Harrison Claire N, Grallert Harald, Kisialiou Aliaksei, Strike Paul, Chase Andrew J, Green Anthony R, Cross Nicholas C P
Abstract excerpt
The 46/1 JAK2 haplotype predisposes to V617F-positive myeloproliferative neoplasms, but the underlying mechanism is obscure. We analyzed essential thrombocythemia patients entered into the PT-1 studies and, as expected, found that 46/1 was overrepresented in V617F-positive cases (n = 404) versus controls (n = 1492, P = 3.9 x 10(-11)). The 46/1 haplotype was also overrepresented in cases without V617F (n = 347, P...
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