Extended Data Fig. 4: Loci with multiple clinical modifier effects. | Nature Genetics

Extended Data Fig. 4: Loci with multiple clinical modifier effects.

From: Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects

Extended Data Fig. 4

Regional association results are shown for the age at TFC-6 GWAS (Fig. 4a) in the regions of PMS1 (a), MSH3 (b), PMS2 (c), FAN1 (d), and LIG1 (e), with genes in each region shown below the plot. Each triangle represents a test SNV at MAF > 1% with significance shown as two-sided p-values from linear mixed effect models with 5.0E-08 considered genome-wide significant (dashed line). For each distinguishable modifier effect detected by conditional analyses, the top SNV and all other SNVs showing r2 > 0.8 with the top SNV are shown as filled triangles while all other SNVs are represented by unfilled triangles. The size of each triangle reflects the SNV MAF, which can be judged by comparison with the triangles representing top tag SNVs for distinguishable modifier effects in Extended Data Table 2. The triangle orientation reflects the direction of effect (upward pointing = delaying; downward pointing = hastening).

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