Lupus & antiphospholipid syndrome
ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis
Authors' conclusion
These findings suggest that the rare variants in ANK1 and EPB41 are novel SONFH disease risk factors that compromise erythrocyte membrane integrity, exacerbating microcirculatory damage in the presence of glucocorticoid as a second hit.
Study context
- Population
- Patients with systemic lupus erythematosus (SLE) taking steroids; validation in SONFH patients without SLE174 SLE + 246 validation
- Participants
- 83 / 91 / 246
- Comparison
- SLE patients on steroids with SONFH vs without SONFH
- SONFHn = 83
- Non-SONFHn = 91reference
- Validation SONFHn = 246
- Outcome
- Rare damaging ANK1 and EPB41 variants associated with SONFH
Methodological detailswhole-exome sequencing, ethnically matched healthy population comparison, validation cohort, genetic burden analysis, Firth's logistic regression
- Whole-exome sequencing
- Ethnically matched healthy population comparison
- Validation cohort
- Genetic burden analysis
- Firth's logistic regression
Main finding
As reported in the abstract
Carriers of heterozygous ANK1/EPB41 rare variants (10 variants)
Adjusted odds ratio (ANK1)
11.3
P < 0.05
SONFH
Adjusted odds ratio (EPB41)
32.3
P < 0.05
SONFH
Observational data: associations, not effects.
Further findings
- Variant carriers in validation SONFH cohort (non-SLE) — Validation SONFH
- 4.1%
Erythrocyte function in variant carriers
- Membrane dysfunction: reduced ANK1 expression, abnormal morphology, increased hypotonic hemolysis
Original publication
ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis. Arthritis Rheumatol. Published 3 May 2026. doi:10.
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