Genome-wide association study identifies the first germline genetic variant associated with Erdheim Chester disease.
Javier Martínez-LópezAna MarquezFrancesco PegoraroLourdes Ortiz-FernándezMarialbert Acosta-HerreraMartin KerickElena GelainEli L DiamondBenjamin H DurhamOmar Abdel-WahabRonald S GoMatthew J KosterLorenzo DagnaCampochiaro CorradoMatthew CollinPaul MilneJuvianee I Estrada-VerasKevin O'BrienMatthias PapoFleur Cohen-AubarZahir AmouraJulien HarocheJavier MartínAugusto VaglioPublished in: Arthritis & rheumatology (Hoboken, N.J.) (2023)
Overall, this work demonstrates that germline genetic variants can impact on the development of ECD and suggests new pathways with a potential pathogenic role.