Lupus & antiphospholipid syndrome
Genetic dissection of HLA-DRB1*15:01 and XL9 region variants in Japanese patients with systemic lupus erythematosus: primary role for HLA-DRB1*15:01
Authors' conclusion
In the Japanese population, HLA-DRB1*15:01 was found to be primarily associated with SLE, and to account for the apparent association of XL9 region.
Study context
- Population
- Japanese patients with systemic lupus erythematosus (SLE) and controls
- Participants
- 442 vs 779
- Comparison
- Japanese SLE patients vs controls: XL9 region variants and HLA-DRB1 alleles
- SLEn = 442
- Controlsn = 779reference
- Outcome
- Association of XL9 variants (rs2105898, rs9271593, rs9271375, rs9271378) and HLA-DRB1 alleles with SLE, with conditional analyses
Methodological detailsconditional association analysis, XL9 variants genotyped by TaqMan SNP Genotyping Assay and direct sequencing; HLA-DRB1 alleles by PCR-reverse sequence-specific oligonucleotide probes
- Conditional association analysis
- XL9 variants genotyped by TaqMan SNP Genotyping Assay and direct sequencing; HLA-DRB1 alleles by PCR-reverse sequence-specific oligonucleotide probes
Main finding
As reported in the abstract
Association with SLE: XL9 variants vs DRB1*15:01
- Associations of rs2105898T and rs9271593C replicated in the Japanese population
- XL9 associations no longer significant when conditioned on DRB1*15:01
- DRB1*15:01 association remained significant after conditioning on XL9 variants
Observational data: associations, not effects.
Original publication
Genetic dissection of HLA-DRB1*15:01 and XL9 region variants in Japanese patients with systemic lupus erythematosus: primary role for HLA-DRB1*15:01. RMD Open. Published 31 May 2023. doi:10.
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