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. Author manuscript; available in PMC: 2022 Mar 18.
Published in final edited form as: Am J Psychiatry. 2020 Sep 11;178(1):87–98. doi: 10.1176/appi.ajp.2020.19080834

Figure 3. Effect of gene dosage on phenotypic measurements.

Figure 3.

(A) Effect-size of a deleted (red) or duplicated (blue) point of pLI on the z-scored Social Responsiveness Scale (SRS) in autistic probands from the SSC pooled with their unaffected relatives (siblings and parents) and the unselected populations from the IMAGEN dataset. Effects were measured with and without adjustment for the diagnosis of autism, and NVIQ. The Y-axis represents the estimated effect of pLI on the SRS z-score computed using the mean and standard deviation of unaffected individuals (0.10 z-score = 1.28 SRS raw score point). The analysis adjusting for NVIQ only contains probands from the SSC and individuals from Imagen. (B) Effect-size of a deleted or duplicated point of pLI on the z-score of the Child behaviour Checklist (CBCL) in autistic probands from the SSC pooled with their unaffected siblings. Effects were measured with and without adjustment for the diagnosis of autism, and NVIQ. The estimates were originally computed as OR using a negative binomial regression. The Y-axis represents the estimated effect of pLI on z-scored CBCL computed using the mean and standard deviation of unaffected individuals (0.10 z-score = 1.52 CBCL raw score point). The analysis adjusting for NVIQ is only performed on probands from the SSC. (C, D) Effect-size of a deleted (red) or duplicated (blue) point of pLI on continuous (C) and categorical (D) phenotypes in autistic probands from the SSC unadjusted for NVIQ. Results adjusted for NVIQ are detailed in Figure S4. Y-axis values of panel (C) are measures z-scored using normative data (Table S7) except for DCDQ which was z-scored using the SSC autistic proband group. Y-axis values of panel (D) are odds ratios computed by logistic regression. The significance threshold was computed (51) to account for multiple testing: 0.0027. (✱) Effects significant after adjusting for NVIQ. CTOPP: Comprehensive Test of Phonological Processing; VABS-II: Vineland Adaptive behaviour Rating Scales - Second Edition; DCDQ: Developmental Coordination Disorder Questionnaire.