Risk allele profile analysis in idiopathic IAA and PNH patients. (A) Scatterplot representing the negative log₁₀ of the adjusted P values (q value, Benjamini-Hochberg correction) resulting from the allele association analysis (see supplemental Methods). Alleles with significantly different genotypic distributions are labeled according to a dominant genetic model. (B) Forest plot reporting the OR defining the estimated effect size of alleles enriched in HC (protective) or in patients (risk). Blue markers describe OR resulting from the analysis of genotypic frequencies (dominant model); red triangles depict the OR deriving from analysis of allelic frequencies (additive model). The pie charts illustrate the distributions of subjects with ≥1 risk allele (darkest colors) or without any risk allele (brighter colors). (C) Barplot depicting the distribution of heterozygous (darkest) and homozygous (brightest) for the 4 risk alleles in controls and patients. Black numbers indicate the total of patients genotyped for the given locus. Colored numbers indicate the number of patients (blue) and controls (red) carriers of the risk alleles in heterozygous (darkest) or homozygous (brightest) configurations. A 2-sided Fisher test is applied to test the significance of associations with phenotype. (D) Forest plots showing the results of the binomial logistic regression analysis predicting the likelihood of each risk allele association with an IAA “immune-enriched” phenotype. HC cohort (n = 960) was used as a comparator group. All (n = 263); IAA responders (n = 141); IAA >20 years (n = 216); IAA with PNH clones (n = 135); IAA >20 years with PNH clone and responders (n = 59).