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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 Vaglio
Published 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.
Keyphrases
  • genome wide association study
  • genome wide
  • dna repair
  • dna methylation
  • copy number
  • dna damage
  • human health
  • oxidative stress
  • risk assessment
  • climate change