Figure 4.
Contribution of individual SNPs to age at symptom onset among C9orf72 patients
(A) The forest plot shows the effect size of each decile obtained by ranking the 161 individual SNPs based on their effect on age at onset in C9orf72 patients.
(B) The regression lines show the association between the ALS genetic risk scores and age at onset in 817 ALS/FTD C9orf72 carriers based on the 16 SNPs of decile 10 (n = 817 ALS/FTD C9orf72 carriers, p = 8.97 × 10−11, β = −2.17, 95% CI = −2.81 to −1.52). The shadow area represents the 90% confidence interval of the regression model.
(C) Sankey diagram showing the functional enrichment of decile 10 genes, based on Gene Ontology terms. Only gene lists that contain between 5 and 500 genes were selected for the analysis. The significant threshold was an false discovery rate (FDR)-corrected p < 0.05.
See also Figures S3–S5 and Tables S3, S4, and S7.