PI20/01002 - Mar Fatjó-Vilas

Neurodevelopment markers and schizophrenia: analysis of their shared genetic underpinnings and the modulation effect of prenatal stress

Based on evidence about the heritability of schizophrenia (SZ), the genetic determinants of dermatoglyphic patterns and the role of dermatoglyphics as risk markers of SZ, we propose an innovative approach, in which biology, genomics and psychiatry converge to go one step further from basic research to clinical applicability. Combining phenomics of the dermatoglyphics pattern with genomics, we aim to: i) improve our understanding of the neurodevelopment pathological processes associated with SZ, ii) to identify non-invasive biomarkers that can be translated into the clinical practice to improve the diagnosis characterisation and prognosis of SZ.

We will investigate: i) the common genetic underpinnings of SZ liability and dermatoglyphic patterns, by analysing the association of hand dermatoglyphics with the Polygenic Risk Score (PRS) for SZ; ii) whether the relationship between the PRS for SZ and the dermatoglyphic patterns is also detectable in other neurodevelopment disorders such as Autism Spectrum Disorders (ASD); iii) the influence of such genetic underpinnings on the sensitivity to prenatal stress.

The design we propose to develop these aims includes different sample types, each representing different genetic/ environmental load for the disorder and/or for neurodevelopment disturbances. Case-control sample: 617 individuals with a diagnostic of SZ and 400 healthy controls. Family-based samples: 80 trios with an offspring with a diagnostic of SZ, 80 trios with an offspring with ASD, 40 mother-child dyads (women with a diagnostic within the psychosis-spectrum).

62.315,00 €

Instituto de Salud Carlos III, with co-financing from the European Regional Development Fund "A way of making Europe".