Understanding Brain/Face Integration from Neuropsychiatric Disorders

다국어 초록 (Multilingual Abstract)

Understanding how genetic and environmental variation alter the integrated development of the face and the brain has important implications for medicine and human evolution. Neuropsychiatric disorders offer an ideal model for investigating the association between facial and brain phenotypes with their underlying genotype. Schizophrenia (SZ) and Bipolar Disorder (BD) are severe psychiatric disorders caused by pathological processes occurring early in neurodevelopment. Disruptions in signaling pathways that are common to brain and face development may explain why these disorders are associated with abnormalities of brain structure and a high prevalence of minor facial dysmorphologies. We assessed facial shape with its neuroanatomical and genetic correlates in a sample with magnetic resonances and genetic data available for 188 subjects (75 healthy controls, 67 SZ and 46 BP patients). Geometric Morphometrics revealed that facial shape variation assessed from 3D facial reconstructions significantly differentiated between SZ/BP patients and controls with moderate accuracy (60–65%). ANOVA tests detected a significant association between facial shape and specific measures of the brain superior frontal regions (thickness, volume and area), whereas the explained facial shape variation increased from 1% to 4.8% in SZ and 6.5% in BD when we included in the model the interaction between a SNP in GLI3 gene and these brain measures. We conclude that facial shape may be considered as an indirect marker of deviances in brain development, and GLI3 as a modulator of brain‐face relationships; probably due to the key role of this gene in the Shh signaling pathway regulating brain and face development.
Ministerio de Ciencia, Innovación y Universidades, Proyectos I+D+i «Retos Investigación» RTI2018‐097845‐J‐I00; 2017SGR1630; 2017SGR1271; CD16/00264.