Fig. 2: Two coding variants in the Autoimmune Regulator gene (AIRE) are independently associated with autoimmune Addison’s disease. | Nature Communications

Fig. 2: Two coding variants in the Autoimmune Regulator gene (AIRE) are independently associated with autoimmune Addison’s disease.

From: GWAS for autoimmune Addison’s disease identifies multiple risk loci and highlights AIRE in disease susceptibility

Fig. 2

a GWAS results without (upper panel) and with (lower panel) conditioning, on the top SNP rs74203920. The secondary association peak, including rs1800520, remains equally significant after conditioning reflecting its independent association. The –log10 P values from logistic regression of 1223 cases and 4097 controls are plotted against their physical chromosomal position. The red bars represent the genome-wide significance level (5 × 10−8). b The location and consequences of the coding change p.R471C in the PHD2 domain of AIRE. The additional charge from the cysteine residue (red) is in close proximity to the zinc ion (teal). Arginine is marked in green, histidine in orange, and wildtype (WT) cysteines in yellow.

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