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This genome-wide association study (GWAS) delineates genetic determinants distinguishing essential thrombocythemia (ET) and polycythemia vera (PV), two major myeloproliferative neoplasm (MPN) subtypes. The study confirms known loci influencing MPN phenotype, identifies nine replicated novel loci, and notably reveals a female-specific association at the CDH22/CD40 locus. Development of a polygenic risk score (PRS) demonstrates moderate predictive power improved by subtype optimization, indicating relevance for risk stratification and potential personalized approaches.
