Vasculitis & polymyalgia rheumatica
HLA-B gene methylation and expression in Behçet's syndrome: a potential role of epigenetics in the pathogenesis
Authors' conclusion
This study indicates epigenetic involvement associated with the HLA-B51 locus in BS, both in familial and sporadic cases.
Study context
- Population
- Familial and sporadic Behçet's syndrome (BS) cases, their relatives and healthy controlsHLA-B51 genotyping cohort
- Participants
- 15 / 17 / 26 / 46 / 41
- Comparison
- BS cases vs relatives and healthy controls
- Index familial BSn = 15
- Affected relativesn = 17
- Unaffected relativesn = 26
- Sporadic BSn = 46
- Healthy controlsn = 41reference
- Outcome
- HLA-B51 expression and HLA-B promoter methylation
Methodological detailscase–control, familial and sporadic cases
- Case–control
- Familial and sporadic cases
Main finding
As reported in the abstract
- HLA-B51 expression in HLA-B51+ BS cases vs unaffected relatives
- 2.2-fold higher (p=0.0149)
- HLA-B51 expression in HLA-B51+ BS cases vs healthy controls
- 1.3-fold higher (p=0.0188)
- HLA-B51 expression in sporadic BS vs healthy controls
- 2.7-fold higher (p=0.0487)
- HLA-B promoter methylation, HLA-B51+ familial BS vs unaffected relatives
- 0.4-fold, p=0.01
- HLA-B promoter methylation, HLA-B51+ familial BS vs affected relatives
- 0.36-fold, p=0.0219
- HLA-B promoter methylation, HLA-B51+ familial BS vs healthy controls
- 0.34-fold, p=0.0371
- HLA-B promoter methylation, HLA-B51+ sporadic BS vs healthy controls (slightly lower)
- 0.71-fold, p=0.2347
- Inverse correlation of HLA-B promoter methylation and HLA-B51 expression in HLA-B51+ sporadic BS
- p=0.0164
Further findings
| Outcome | Values |
|---|---|
| HLA-B51 carrier ratio | Index familial BS 13/15 · Affected relatives 13/17 · Unaffected relatives 22/26 · Healthy controls 8/25 · Sporadic BS 35/47 |
Original publication
HLA-B gene methylation and expression in Behçet's syndrome: a potential role of epigenetics in the pathogenesis. Clin Exp Rheumatol. Published 2 August 2023. doi:10.
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