Autoinflammatory & rare systemic diseases
Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease
Main finding · Susceptibility locus at 18q12.3 (annotated to SETBP1)Result — go to the resultOdds ratio 2.09Authors' conclusion
Overall, this work demonstrates that germline genetic variants can impact on the development of ECD and suggests new pathways with a potential pathogenic role.
Study context
- Population
- Patients with Erdheim-Chester disease and healthy donors, after quality controlsafter quality controls
- Participants
- 255 vs 7,471
- Comparison
- Patients with erdheim-Chester disease (ECD) vs healthy donors
- ECDn = 255
- Healthy donorsn = 7,471reference
- Outcome
- Germline genetic variants associated with ECD susceptibility
Methodological detailscase-control, logistic regression, in silico functional annotation
- Case-control
- Logistic regression
- In silico functional annotation
Main finding
As reported in the abstract
Susceptibility locus at 18q12.3 (annotated to SETBP1)
Odds ratio
2.09
P = 2.75 × 10-11
Observational data: associations, not effects.
Further findings
Functional annotation of the region and suggestive signals
- Revealed additional genes potentially involved in the pathogenesis of the disease
Original publication
Genome‐Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim‐Chester Disease. Arthritis Rheumatol. Published 7 November 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →