Genetic and Population Analyses Implicate Thyroid‐Related Regulation of RNF144B in Chondrocalcinosis
Authors' conclusion
These findings identify genetic loci for radiographic chondrocalcinosis and offer hypothesis-generating evidence of thyroid-related pathways in its susceptibility, providing insight into molecular mechanisms underlying joint mineralization.
Study context
- Population
- Rotterdam Study participants with radiographically defined knee, hand and combined chondrocalcinosisup to
- Participants
- 9,317 participants
- Outcome
- Genetic determinants (genome-wide significant loci) of radiographic knee and hand chondrocalcinosis
Methodological detailsreplication in the Versus Arthritis Osteoarthritis Genetics study and the Multicenter Osteoarthritis Study, translational annotation, cross-sectional population analysis
- Replication in the Versus Arthritis Osteoarthritis Genetics study and the Multicenter Osteoarthritis Study
- Translational annotation
- Cross-sectional population analysis
Main finding
As reported in the abstract
Genome-wide significant loci for knee chondrocalcinosis
Novel signal rs62424495 at ENPP1-locus, β
−0.21
P = 2.6 × 10-9
Previously reported signal rs6927663 at RNF144B-locus, β
0.12
P = 8.8 × 10-10
Observational data: associations, not effects.
Further findings
Colocalization of lead variant with circulating thyroid-stimulating hormone (TSH) levels
- Lead variant and circulating TSH, β
- 0.027 (P = 2 × 10-14)
Circulating TSH and knee chondrocalcinosis (Rotterdam Study, n = 2,892)
- Higher TSH levels cross-sectionally associated with presence and severity of knee chondrocalcinosis
- Cross-sectional
Candidate effector genes
- ENPP1 and RNF144B prioritized; variant likely affects RNF144B regulation in thyroid tissue
Original publication
Genetic and Population Analyses Implicate Thyroid‐Related Regulation of RNF144B in Chondrocalcinosis. Arthritis Rheumatol. Published 20 August 2026. doi:10.
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