ArticleArthritis & rheumatology (Hoboken, N.J.)2024
Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease.
Article in Arthritis & rheumatology (Hoboken, N.J.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Unraveling the molecular landscape of Erdheim-Chester disease: new insights from methylome and transcriptome integration.Leukemia · 2025Article
- Long-term outcome and prognosis of mixed histiocytosis (Erdheim-Chester disease and Langerhans Cell Histiocytosis).EClinicalMedicine · 2024Article
- Case report: Targeted treatment strategies for Erdheim-Chester disease.Frontiers in oncology · 2024Article
- Erdheim-Chester Disease Due to a Novel Internal Duplication of NRAS: Response to Targeted Therapy with Cobimetinib.International journal of molecular sciences · 2023Article
Corrections and comments
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Authors and funding
24 authors at 9 institutions in 5 countries.
Funding
Abstract
objectiveErdheim-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.
methodsAfter quality controls, a cohort of 255 patients with ECD and 7,471 healthy donors was included in this study. Afterward, a logistic regression followed by in silico functional annotation was performed.
resultsA signal at the 18q12.3 genomic region was identified as a new susceptibility locus for ECD (P = 2.75 × 10
conclusionOverall, this work demonstrates that germline genetic variants can impact on the development of ECD and suggests new pathways with a potential pathogenic role.
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