A review of genetic risk in systemic lupus erythematosus

Figures & data

Figure 1. Flow of a typical process from initial GWAS to functional dissection [18]. (A) A GWAS study with appropriate population selection detects association between variants and disease. (B) Statistical fine-mapping and genomic annotations are applied to prioritize candidate causal variants. (C) Target genes are predicted using expression QTL data and/or enhancer-target gene promoter interaction (chromatin confirmation capture). (D) Application of experimental approaches to define the functional significance of causal variants and target genes.

Figure 2. Trans-ancestral analysis at the C4 locus [34]. (a) Each C4 allele associated with effect sizes of similar magnitude on SLE risk in Europeans and African Americans with loss of C4A (the C4B(S) haplotype) having the strongest effect. (b) Analysis of SLE risk across combinations of C4-B(S) and DRB1 × 03:01 genotypes indicate that on each DRB1 × 03:01 genotype background, additional C4-B(S) alleles increase risk, whereas, on each C4-B(S) background, DRB1 × 03:01 alleles have no appreciable relationship with risk.

Figure 3. The analogy between Mendelian randomization and randomized controlled trial [50].

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