Fig. 3: Additive effect of rare DD variant burden and EA-PGS on DD-related phenotypes.
From: Genetic modifiers of rare variants in monogenic developmental disorder loci
a−d, Linear regressions of fluid intelligence (a), age left education (b), income (c) and TDI (d) versus the EA-PGS quintile in UKB. The black dashed horizontal line corresponds to noncarriers of rare DD variants (n = 365,409); dark/medium/light horizontal lines correspond to carriers of 1, 2 or 3+ rare DD variants (n = 50,395, 3,831 and 219), respectively. Notably, within UKB, a sufficiently high EA-PGS can compensate for the effect of a primary variant and, in most cases, any additional rare DD variants on these traits. Data are presented as mean values ± 95% CI (vertical lines), where solid vertical lines indicate that the P value reached Bonferroni-corrected significance and dashed vertical lines indicate that it did not. P values were not corrected for multiple testing.
