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Fig. 5 | Molecular Autism

Fig. 5

From: Genetic and morphological estimates of androgen exposure predict social deficits in multiple neurodevelopmental disorder cohorts

Fig. 5

Polygenic androgen signaling associations with social functioning in SPARK. Results of the social communication questionnaire (SCQ) from N = 9419 SPARK participants were synthesized into eight latent factors, whose scores were tested for association with binary sex, testosterone PRS, and SHBG PRS (a, ordered by decreasing effect size of binary sex). Factor loadings are shown in (b). Factor 8, which loads on imaginative, creative, and cooperative play, was significantly associated (\(p<0.05\)) with binary sex, testosterone PRS, and SHBG PRS, and in directions in agreement with our hypothesis. Some SCQ items were not well-captured by the factor structure, and so were considered separately (c). Of these, SCQ item 19 “has a best friend or friends” was likewise associated (\(p<0.05\)) with binary sex, testosterone PRS, and SHBG PRS in the anticipated directions. When considering the extremes of each explanatory variable (sex: male, female; testosterone and SHBG PRS: 0.1 and 99.9th percentiles) and scaling the effect parameter estimates across those ranges, we observed that the binary sex contribution to Factor 8 (d) and SCQ item 19 (e) was comparable in magnitude to the purely autosomal effects of testosterone and SHBG PRS

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