Article
Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders.
Blood - 1 Mar 2008
Pardanani Animesh, Fridley Brooke L, Lasho Terra L, Gilliland D Gary, Tefferi Ayalew
Abstract excerpt
JAK2V617F is an acquired mutation associated with polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). We tested the hypothesis that the paradox of a single disease allele associated with 3 distinctive clinical phenotypes could be explained in part by host-modifying influences. We screened for genetic variation within 4 candidate genes involved in JAK-STAT signaling, including...
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