Klaudia Walter

Jan 17, 2024 | nature.com | Jing Guo |Klaudia Walter |Paola Guglielmelli |George S. Vassiliou |Jyoti Nangalia

AbstractMyeloproliferative neoplasms (MPNs) are chronic cancers characterized by overproduction of mature blood cells. Their causative somatic mutations, for example, JAK2V617F, are common in the population, yet only a minority of carriers develop MPN. Here we show that the inherited polygenic loci that underlie common hematological traits influence JAK2V617F clonal expansion. We identify polygenic risk scores (PGSs) for monocyte count and plateletcrit as new risk factors for JAK2V617F positivity.

Aug 18, 2023 | nature.com | Parsa Akbari |Luca Stefanucci |Kousik Kundu |Roman Kreuzhuber |Erik L. Bao |Janine Collins | +12 more

AbstractBlood cells contain functionally important intracellular structures, such as granules, critical to immunity and thrombosis. Quantitative variation in these structures has not been subjected previously to large-scale genetic analysis. We perform genome-wide association studies of 63 flow-cytometry derived cellular phenotypes—including cell-type specific measures of granularity, nucleic acid content and reactivity—in 41,515 participants in the INTERVAL study.