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Fig. 1 | Molecular Autism

Fig. 1

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

Fig. 1

Study overview. Study 1 (devGenes, N = 763) investigated computer-generated proxies for masculinization that are evident in facial photographs and the 2D:4D ratio (hand scans), and the relationship of these masculinity measures to diagnoses (a), parent-reported problems (b), and polygenic risk scores (c). These investigations suggested involvement of androgen-related mechanisms in social functioning, a hypothesis we investigated further in study 2 (SPARK, N = 9419). In SPARK, we computed polygenic risk scores for testosterone levels and sex hormone binding globulin (SHBG) levels, and tested those for association with latent factors in the social communication questionnaire (SCQ) (d). This analysis revealed that binary sex effects (male or female) on these factor scores and items were comparable in magnitude to the effect of the polygenic risk scores, which are derived entirely from autosomal genotypes (e)

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