Article
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.
American journal of human genetics - 4 Feb 2021
Galatà Gabriella, García-Montero Andrés C, Kristensen Thomas, Dawoud Ahmed A Z, Muñoz-González Javier I, Meggendorfer Manja, Guglielmelli Paola, Hoade Yvette, Alvarez-Twose Ivan, Gieger Christian, Strauch Konstantin, Ferrucci Luigi, Tanaka Toshiko, Bandinelli Stefania, Schnurr Theresia M, Haferlach Torsten, Broesby-Olsen Sigurd, Vestergaard Hanne, Møller Michael Boe, Bindslev-Jensen Carsten, Vannucchi Alessandro M, Orfao Alberto, Radia Deepti, Reiter Andreas, Chase Andrew J, Cross Nicholas C P, Tapper William J
Abstract excerpt
Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzing 1,035 individuals with KIT D816V positive disease and 17,960 healthy control individuals from...
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