Relation between human leucocyte antigen (HLA) and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease
Authors' conclusion
We identified strong associations between copy number variants in the CYP21 region and risk of AAD, although these associations most likely are due to linkage disequilibrium with disease-associated HLA class II alleles.
Study context
- Population
- Swedish patients with autoimmune Addison's disease (AAD) and 21-hydroxylase autoantibodies, and healthy controls
- Participants
- 479 vs 1,393
- Comparison
- Patients with AAD vs healthy controls
- AADn = 479
- Healthy controlsn = 1,393reference
- Outcome
- Association of CYP21 gene copy number variation (CYP21A2, CYP21A1P) and HLA alleles with AAD
Methodological detailsNext-generation DNA sequencing
- Next-generation DNA sequencing
Main finding
As reported in the abstract
Individuals carrying 2 functional 21-hydroxylase genes
95%
Observational data: associations, not effects.
Further findings
| Outcome | P value |
|---|---|
| HLA allelesStrongest association: HLA-DQB1*02:01 | P = 9 × 10-63 |
HLA alleles
- HLA-DQB1*02:01 combined with DRB1*04:04-DQB1*03:02 haplotype imposed the greatest risk of AAD
Original publication
Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease. Eur J Endocrinol. Published 9 August 2023. doi:10.
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