Fig. 6
From: Identification of sixteen novel candidate genes for late onset Parkinson’s disease
Distribution of variants load, ROC curve and analysis of PD endophenotypes. a, b Very rare (MAF ≤ 0.001), exonic variants (exclusion of synonymous changes) were annotated in 26 PD genes in 394 unrelated Italian cases and in 203 controls. a The histogram shows the percentage of samples (cases in blue and controls in green) carrying 0, 1, 2, 3, 4 variants in the selected genes; b ROC curve and analysis of sensitivity and specificity. The test shows that the distribution is high significant and the test may predict the disease in about 17% of at risk individuals in the general population, carrying at least 2 variants, with specificity > 93%. c Percentage of PD cases manifesting L-dopa-induced dyskinesia (LID), and earlier age at onset (AAO) of Parkinson’s disease. d Polygenic variant load, including GBA variants, was inversely associated with age at PD onset at the nominal significance level (p 0.044). For each comparison, we set statistical significance threshold at p < 0.05. Statistical significance was reported with asterisk