| Title: | Chondrocalcinosis and the haemochromatosis-linked HFE C282Y homozygous variant in the UK Biobank |
| Journal: | EULAR Rheumatology Open |
| Published: | 1 Mar 2026 |
| DOI: | https://doi.org/10.1016/j.ero.2025.11.016 |
Publication 17571
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Abstract
Objectives C282Y genetic homozygosity is the main cause of the iron-overload disorder haemochromatosis. Musculoskeletal pain and arthropathy are common in haemochromatosis, but less is known about chondrocalcinosis (cartilage calcification) with the C282Y variant, especially in the community. We assessed knee chondrocalcinosis in intelligent dual-energy X-ray absorptiometer (iDXA) images from UK Biobank volunteers by HFE genotype. Methods Data were from 236 European genetic ancestry C282Y homozygotes and 236 age, sex, and body mass index (BMI)-matched controls with no C282Y alleles (48-80 years, mean 64.6, SD ±7.6). Of 472 participants, 435 had relevant left and right knee iDXA imaging. Evidence of chondrocalcinosis was assessed by an experienced reporting radiographer blind to genotype to ensure unbiased and objective evaluation. Logistic regression models were age, sex, and BMI matched. Results C282Y homozygotes had significantly increased odds of knee chondrocalcinosis (odds ratio [OR]: 3.79, 95% CI: 1.51-9.55, P = .005). Among males, 15.9% (14/88) of homozygotes showed chondrocalcinosis vs <5.9% (<5/84) of controls (OR = 7.76, 95% CI: 1.71-35.25, P = .008). Of affected males, 57.1% reported knee pain, yet fewer than 28.6% had a haemochromatosis diagnosis. In females, 6.0% (8/134) of homozygotes had chondrocalcinosis vs <3.9% (<5/129) of controls, but the association was not statistically significant (OR = 1.98, 95% CI: 0.58-6.76, P = .27), suggesting a need for larger samples. Conclusions In this community-genotyped sample, male C282Y homozygotes had markedly increased odds of knee chondrocalcinosis. Evaluation of serum ferritin levels to identify possible haemochromatosis may be justified in knee chondrocalcinosis management.</p>
5 Authors
- Lucy R Banfield
- Karen M Knapp
- Luke C Pilling
- David Melzer
- Janice L Atkins
1 Application
| Application ID | Title |
|---|---|
| 14631 | Genetic and environmental influences on ageing well |
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