13Aug 2023
Genome‐wide association study identifies the first germline genetic variant associated with Erdheim Chester disease

Genome‐wide association study identifies the first germline genetic variant associated with Erdheim Chester disease

Erdheim-Chester disease (ECD), a rare histiocytosis with varied clinical presentations, has been associated primarily with somatic mutations. However, the potential influence of inherited genetic variants on ECD has not been explored. This study examined the inherited genetic component of ECD through a genome-wide association study. Analyzing a cohort of 255 ECD patients and 7,471 healthy individuals, researchers identified a new genetic locus (18q12.3) linked to ECD susceptibility, involving the SETBP1 gene associated with clonal haematopoiesis. This discovery suggests that germline genetic variants might contribute to ECD development and highlights potential new pathways in its pathogenesis.

  • #rheumatology

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