Lupus & antiphospholipid syndrome
A Multilayered Post– Genome‐Wide Association Study Analysis Pipeline Defines Functional Variants and Target Genes for Systemic Lupus Erythematosus
Authors' conclusion
We demonstrate and validate post-GWAS strategies for using multidimensional data to prioritize likely causal variants with cognate gene targets underlying SLE pathogenesis.
Study context
- Population
- Systemic lupus erythematosus (SLE) GWAS susceptibility loci and associated single-nucleotide polymorphisms (SNPs)
- Outcome
- Likely causal variants and target genes for SLE
Methodological detailspost-GWAS fine-mapping, integrative functional genomic and epigenomic analyses, CRISPR/Cas9 validation
- post-GWAS fine-mapping
- Integrative functional genomic and epigenomic analyses
- CRISPR/Cas9 validation
Main finding
As reported in the abstract
- Index SNPs anchored on
- 452
- High linkage disequilibrium (r2 > 0.8) SNPs selected
- 9,931
- Independent non-HLA SLE loci defined
- 182
- SNPs identified as regulating unique genes
- 3,746
- Loci of these SNPs
- 143
- Unique genes regulated
- 564
- SNPs with significant allele-specific chromatin accessibility and/or enhancer activity
- 329
- Loci of these regulatory SNPs
- 106
Original publication
A Multilayered Post– Genome‐Wide Association Study Analysis Pipeline Defines Functional Variants and Target Genes for Systemic Lupus Erythematosus. Arthritis Rheumatol. Published 26 March 2024. doi:10.
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