Vasculitis & polymyalgia rheumatica
Identification of the VLDLR locus associated with giant cell arteritis and the possible causal role of low-density lipoprotein cholesterol in its pathogenesis
Authors' conclusion
Our study identified associations between GCA risk and the MHC class II and VLDLR regions. Moreover, LDL cholesterol was suggested to have a causal effect on the risk of developing GCA.
Study context
- Population
- Publicly available genome-wide association studies (GWAS) results from the UK (UKBB) and Finland (FinnGen) biobankstwo biobank GWAS
- Comparison
- GCA cases vs controls; genetically predicted low-density lipoprotein (LDL) cholesterol and GCA risk
- Outcome
- Association between genetic variants and GCA risk
Methodological detailsmeta-analysis of two biobank GWAS (UKBB, FinnGen)
- Meta-analysis of two biobank GWAS (UKBB, FinnGen)
Pooled result
As reported in the abstract
Genetic loci associated with GCA risk
- MHC class II region showed significant associations in UKBB, FinnGen and the meta-analysis
- VLDLR region associated with GCA risk in the meta-analysis
- T allele of rs7044155 increased VLDLR expression, decreased LDL cholesterol and decreased disease risk
Further pooled results
Mendelian randomization (MR): 1 s.d. increase in LDL cholesterol and GCA risk
- OR
- 1.21 (95% CI 1.01-1.45; P = 0.04)
- Two-sample Mendelian randomization
Original publication
Identification of the VLDLR locus associated with giant cell arteritis and the possible causal role of low-density lipoprotein cholesterol in its pathogenesis. Rheumatology (Oxford). Published 6 February 2024. doi:10.
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