Biology subjects

Roberto Toro

Publications and source records attributed to Roberto Toro.

4 recordsLinked to original sources

bioRxiv2016

Genome-wide analyses of empathy and systemizing: heritability and correlates with sex, education, and psychiatric risk

Empathy is the ability to recognize and respond to the emotional states of other individuals. It is an important psychological process that facilitates navigating social interactions and maintaining relationships, which are important for wellbeing. Several psychological studies have identified difficulties in both self-report and performance-based measures of empathy in a range of psychiatric conditions. To date, no study has systematically investigated the genetic architecture of empathy using genome-wide association studies (GWAS). Here we report the results of the largest GWAS of empathy to date using a well-validated self-report measure of empathy, the Empathy Quotient (EQ), in 46,861 research participants from 23andMe, Inc. We identify 11 suggestive loci (P < 1x10-6), though none were significant at P < 2.5x10-8 after correcting for multiple testing. The most significant SNP was identified in the non-stratified analysis (rs4882760; P = 4.29x10-8), and is an intronic SNP in TMEM132C. The EQ had a modest but significant narrow-sense heritability (0.11{+/-}0.014; P = 1.7x10-14). As predicted, based on earlier work, we confirmed a significant female-advantage on the EQ (P < 2x10-16 Cohens d = 0.65). We identified similar SNP heritability and high genetic correlation between the sexes. Also, as predicted, we identified a significant negative genetic correlation between autism and the EQ (rg = -0.27{+/-}0.07, P = 1.63x10-4). We also identified a significant positive genetic correlation between the EQ and risk for schizophrenia (rg = 0.19{+/-}0.04; P= 1.36x10-5), risk for anorexia nervosa (rg = 0.32{+/-}0.09; P = 6x10-4), and extraversion (rg = 0.45{+/-}0.08; 5.7x10-8). This is the first GWAS of self-reported empathy. The results suggest that the genetic variations associated with empathy also play a role in psychiatric conditions and psychological traits.

Genomics↗

bioRxiv2015

Mechanical morphogenesis and the development of neocortical organisation

The development and evolution of complex neocortical organisations is thought to result from the interaction of genetic and activity-dependent processes. Here we propose that a third type of process - mechanical morphogenesis - may also play an important role. We review recent theoretical and experimental results in non-linear physics showing how homogeneous growth can produce a rich variety of forms, in particular neocortical folding. The mechanical instabilities that produce these forms also induce heterogeneous patterns of stress at the scale of the organ. We review the evidence showing how these stresses can influence cell proliferation, migration and apoptosis, cell differentiation and shape, migration and axonal guidance, and could thus be able to influence regional neocortical identity and connectivity.

Neuroscience↗

bioRxiv2014

Neuroanatomical diversity of corpus callosum and brain volume in the Autism Brain Imaging Data Exchange (Abide) project

The corpus callosum - the main pathway for long-distance inter-hemispheric integration in the human brain - has been frequently reported to be smaller among autistic patients compared with non-autistic controls. We conducted a meta-analysis of the literature which suggested a statistically significant difference. However, the studies included were heavily underpowered: on average only 20% power to detect differences of 0.3 standard deviations, which makes it difficult to establish the reality of such a difference. We therefore studied the size of the corpus callosum among 694 subjects (328 patients, 366 controls) from the Abide cohort. Despite having achieved 99% power to detect statistically significant differences of 0.3 standard deviations, we did not observe any. To better understand the neuroanatomical diversity of the corpus callosum, and the possible reasons for the previous findings, we analysed the relationship between its size, the size of the brain, intracranial volume and intelligence scores. The corpus callosum appeared to scale non-linearly with brain size, with large brains having a proportionally smaller corpus callosum. Additionally, intelligence scores correlated with brain volume among controls but the correlation was significantly weaker among patients. We used simulations to determine to which extent these two effects could lead to artefactual differences in corpus callosum size within populations. We observed that, were there a difference in brain volume between cases and controls, normalising corpus callosum size by brain volume would not eliminate the brain volume effect, but adding brain volume as a covariate in a linear model would. Finally, we observed that because of the weaker correlation of intelligence scores and brain volume among patients, matching populations by intelligence scores could result in a bias towards including more patients with large brain volumes, inducing an artificial difference. Overall, our results highlight the necessity for open data sharing efforts such as Abide to provide a more solid ground for the discovery of neuroimaging biomarkers, within the context of the wide human neuroanatomical diversity.

Neuroscience↗

bioRxiv2013

Genomic architecture of human neuroanatomical diversity

Human brain anatomy is strikingly diverse and highly inheritable: genetic factors may explain up to 80% of its variability. Prior studies have tried to detect genetic variants with a large effect on neuroanatomical diversity, but those currently identified account for <5% of the variance. Here we show, based on our analyses of neuroimaging and whole-genome genotyping data from 1,765 subjects, that up to 54% of this heritability is captured by large numbers of single nucleotide polymorphisms of small effect spread throughout the genome, especially within genes and close regulatory regions. The genetic bases of neuroanatomical diversity appear to be relatively independent of those of body size (height), but shared with those of verbal intelligence scores. The study of this genomic architecture should help us better understand brain evolution and disease.

Neuroscience↗