Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition disease
Authors' conclusion
ENPP1 encodes ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (NPP1) that produces adenosine monophosphate (AMP) and inorganic pyrophosphate which, together with calcium ions, leads to the formation of calcium pyrophosphate crystals.
Study context
- Population
- People of African (AFR) and European (EUR) ancestry in the Veterans Affairs Million Veteran Program with Phecode-defined chondrocalcinosis or crystal arthropathychondrocalcinosis cases (536 AFR, 2468 EUR)
- Participants
- 3,004 people
- Outcome
- Genome-wide significant loci for chondrocalcinosis
Methodological detailspublicly available genome-wide association study (GWAS) summary statistics, colocalisation analysis with genetic control of gene expression
- Publicly available GWAS summary statistics
- Colocalisation analysis with genetic control of gene expression
Main finding
As reported in the abstract
- Genome-wide significant loci for chondrocalcinosis in both AFR and EUR cases, both on chromosome 6 (signals within ENPP1 and RNF144B)
- 2
Further findings
Crystal arthropathy (3766 cases: 700 AFR, 3066 EUR)
- Findings supported by analysis of the crystal arthropathy cohort
Colocalisation with genetic control of gene expression and alternative splicing
- Further supported ENPP1 and RNF144B as candidate causal genes
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition disease. Ann Rheum Dis. Published 28 May 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →