Fig 1.
Analysis flowchart with relevant research questions in bold text.
Table 1.
Samples sizes for each age group (defined by Philadelphia Neurodevelopmental Cohort) after quality control and selection of unrelated European samples.
Fig 2.
Autism PRS association with PNC phenotypes.
Overview of best-fit models for autism spectrum disorder (ASD) associating with neurodevelopmental phenotypes in adult (AP, Nphenotypes = 324), middle (MP, Nphenotypes = 490), and young (YP, Nphenotypes = 311) probands of the Philadelphia Neurodevelopmental Cohort. (A) Maximum phenotypic variance explained (R2) by the best model fit for each trait given genetic liability to ASD. The dashed horizontal line represents the nominal significance threshold. (B-D) The relationship between binned ASD polygenic risk scores for AP, MP, and YP participants and the most significant phenotype predicted by ASD genetic liability: (B) SIP033 Structural Interview for Prodromal Symptoms: “Has anyone pointed out to you that you are less emotional or connected to people than you used to be?”; (C) PEITANG: Number of correct responses to anger trials during completion of The Penn Emotional Identification Test (PEIT) for recognizing angry emotions; (D) PADT_SAME_PC: Percent of correct responses to test trials with no age difference during completion of the Penn Age Differentiation Test for detecting which face in a face pair appears older. Note the lowest quartile in figures B-D represents the referent.
Fig 3.
Predicting emotion recognition with ASD PRS.
Association between facial emotion capabilities of the middle proband group (ages 11 to 17) of the Philadelphia Neurodevelopmental Cohort using polygenic risk (PRS) for autism spectrum disorder. The x-axis shows correctness and response time for each facial emotion using two neurocognitive instruments: The Penn Emotion Identification Test (shaded colors: original results; tinted colors: results covaried for the effects of PEITANG). Significance is indicated by * for p < 0.05 and ** for FDR Q < 0.05.
Fig 4.
Robustness of the ASD and PEITANG relationship.
Association between the ability to recognize angry faces in the middle proband group (ages 11–17) using the polygenic risk for autism spectrum disorder (ASD) covaried for age, sex, ten principal components, and the PRS for four brain imaging phenotypes, attention deficit hyperactivity disorder, schizophrenia, and educational attainment. (A) PRS p-value across a range of genome-wide significance (GWS) thresholds; the maximum PRS before and after covarying for all brain and psychiatry traits are labeled. (B) The positive correlation between quartiles of ASD polygenic risk and the number of correct responses to anger recognition trials in the Penn Emotional Intelligence Test; the lowest PRS quartile represents the referent.
Table 2.
Relationship between PEITANG and PRS of additional phenotypes.
Best model fit PRS of psychiatric disorder, educational attainment, and brain image-derived phenotype polygenic risk scores associated with the PEITANG phenotype in the Philadelphia Neurodevelopmental Cohort middle proband group (aged 11–17 years old).