MDA5 variants trade antiviral activity for protection from autoimmune disease

Figures

• 

  Fig. 1. Manhattan plots of fine-mapped variants for five diseases. Colored circles indicate the fine mapping sets identified, and colored text labels the most likely causal SNP in each set, selected due its known function on MDA5. Known loss-of-function SNPs that were not in any fine mapping set are marked with “x” and a black label. Lower right, minor allele frequency (MAF) and function of fine-mapped SNPs

• 

  Fig. 2. GWAS meta-analysis of loss-of-function MDA5 variants. a Effect sizes expressed in terms of the odd ratio for selected MDA5 loss-of-function variants. ‡Because rs35337543 was only available in two GWAS datasets, rs72871627 (r2 = 0.973) was used as a tag for rs35337543. EAF, effect allele frequency. Error bars, SEM. ns, P > 0.05; *, P < 0.05; **, P < 0.01; ***, P < 0.001; ****, P < 5 × 10–8 (genome-wide significance), where P is the Bonferroni-adjusted P value from single variant association analysis. CV, likely causal variant present in a credible set in fine-mapping analysis. See Table 1. b Odds ratio plot for variants and diseases in (a). c Estimated effect sizes in hypothyroidism compared to the other diseases. Hypothyroidism was selected because it was the largest dataset for which all SNPs were available. Dashed lines, identity and negative identity lines