Genetic association of antinuclear antibodies with HLA in Juvenile Idiopathic Arthritis (JIA) patients: a Swedish cohort study
Authors' conclusion
This study identified distinct genetic associations between HLA alleles and JIA subtypes, particularly in ANA-positive patients.
Study context
- Population
- Swedish cohort of JIA patients and healthy adult controls
- Participants
- 329 vs 728
- Comparison
- JIA patients vs healthy adult controls
- JIAn = 329
- Healthy controlsn = 728reference
- Outcome
- Genetic (SNP and HLA allele) association with JIA
Methodological detailsgenome-wide genotyping (Illumina OmniExpress array), HLA imputation (SNP2HLA), logistic regression
- Genome-wide genotyping (Illumina OmniExpress array)
- HLA imputation (SNP2HLA)
- Logistic regression
Main finding
As reported in the abstract
Genome-wide significant association with JIA
- SNPs with genome-wide significant association to JIA, all on chromosome 6 within the MHC class II region
- 12
Observational data: associations, not effects.
Further findings
Association by JIA subtype
- HLA-DRB1*08:01, DQA1*04:01, DQB1*04:02 associated with oligoarthritis and RF-negative polyarthritis
- HLA-DRB1*11 specifically enriched in oligoarthritis
Antinuclear antibody (ANA) positivity and HLA alleles
- Significant correlation between ANA positivity and specific HLA alleles
- ANA-positive JIA showed stronger associations with the HLA-DRB1-DQA1-DQB1 haplotype, HLA-DRB1*11 and HLA-DPB1*02
- Logistic regression: HLA alleles, female sex and lower age at onset affected ANA positivity
Original publication
Genetic association of antinuclear antibodies with HLA in JIA patients: a Swedish cohort study. Pediatr Rheumatol Online J. Published 26 August 2024. doi:10.
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