Vasculitis & polymyalgia rheumatica
Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study
Authors' conclusion
We have found several additional loci associated with giant cell arteritis, highlighting the crucial role of angiogenesis in disease susceptibility.
Study context
- Population
- Patients with GCA and healthy controls of European ancestry from ten cohorts across Europe and North Americaten cohorts
- Participants
- 3,498 vs 15,550
- Comparison
- Patients with GCA vs healthy controls
- GCAn = 3,498
- Controlsn = 15,550reference
- Outcome
- Genetic loci associated with GCA risk
Methodological detailsten cohorts across Europe and North America, European ancestry, fine-mapping, causal gene prioritisation, drug repurposing analysis, polygenic risk score
- Ten cohorts across Europe and North America
- European ancestry
- Fine-mapping
- Causal gene prioritisation
- Drug repurposing analysis
- Polygenic risk score
Pooled result
As reported in the abstract
Novel loci associated with GCA risk (genome-wide association studies (GWAS) meta-analysis)
Odds ratio (95% CI)P value
MFGE8 (rs8029053)related to angiogenesis pathways
1.19(1.12–1.26)
P = 4.96 × 10-8VTN (rs704)related to angiogenesis pathways
0.84(0.79–0.89)
P = 2.75 × 10-9CCDC25 (rs11782624)related to neutrophil extracellular traps (NETs)
1.18(1.12–1.25)
P = 1.28 × 10-8- Three novel loci associated with risk of GCA
- 3
Further pooled results
| Outcome | OR (95% CI) | P value | |
|---|---|---|---|
| Polygenic risk score, 90th percentile | 2.87 (2.15–3.82) | P = 1.73 × 10-13 | |
| 0.20.5125Odds ratio (log scale) |
Other associated regions
- Association between GCA and HLA region and PLG
Drug repurposing
- Several drugs identified as promising treatment candidates
Original publication
Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study. Lancet Rheumatol. Published 8 May 2024. doi:10.
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