Genome-wide association study identifies the first germline genetic variant associated with Erdheim Chester disease.
Martínez-López J, Márquez A, Pegoraro F et al.
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Objective: Erdheim-Chester disease (ECD) is rare histiocytosis with a wide range of clinical manifestations. Somatic mutations are key to the pathogenesis of the disease; however, the relationship between germline genetic variants and ECD has not been examined so far. The present study aims to explore the inherited genetic component of ECD by performing the first genome-wide association study.
255 European ancestry cases, 7,471 European ancestry controls
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