Lupus & antiphospholipid syndrome
Development of an major histocompatibility complex (MHC) imputation panel highlights independent contributions of human leukocyte antigen (HLA) amino acid residues and C4 copy number variations to systemic lupus erythematosus (SLE) risk
Authors' conclusion
This study enhanced the understanding of HLA and C4 in SLE pathogenesis and holds promise for advancing MHC association studies for immune-mediated inflammatory disorders in East Asians using our MHC panel, accessible via https://coda.nih.go.kr/usab/kis/intro.do.
Study context
- Population
- Korean samples (whole-genome-sequencing (WGS)) for the East Asian MHC reference panel; 2 independent SLE GWAS datasets∼2000 Korean WGS samples
- Outcome
- Imputation accuracy and SLE-associated MHC variants
Methodological detailsMHC imputation reference panel development, leave-one-out cross-validation, stepwise conditional analyses, fine-mapping, model comparisons
- MHC imputation reference panel development
- Leave-one-out cross-validation
- Stepwise conditional analyses
- Fine-mapping
- Model comparisons
Performance
As reported in the abstract
Haploid-level imputation accuracy, HLA
95%
Haploid-level imputation accuracy, C4
94%
Original publication
Development of an MHC imputation panel highlights independent contributions of HLA amino acid residues and C4 copy number variations to SLE risk. Ann Rheum Dis. Published 5 July 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →