Enrichment of genetic markers of recent human evolution in educational and cognitive traits

Abstract

Higher cognitive functions are regarded as one of the main distinctive traits of humans. Evidence for the cognitive evolution of human beings is mainly based on fossil records of an expanding cranium and an increasing complexity of material culture artefacts. However, the molecular genetic factors involved in the evolution are still relatively unexplored. Here, we investigated whether genomic regions that underwent positive selection in humans after divergence from Neanderthals are enriched for genetic association with phenotypes related to cognitive functions. We used genome wide association data from a study of college completion (N = 111,114), one of educational attainment (N = 293,623) and two different studies of general cognitive ability (N = 269,867 and 53,949). We found nominally significant polygenic enrichment of associations with college completion (p = 0.025), educational attainment (p = 0.043) and general cognitive ability (p = 0.015 and 0.025, respectively), suggesting that variants influencing these phenotypes are more prevalent in evolutionarily salient regions. The enrichment remained significant after controlling for other known genetic enrichment factors, and for affiliation to genes highly expressed in the brain. These findings support the notion that phenotypes related to higher order cognitive skills typical of humans have a recent genetic component that originated after the separation of the human and Neanderthal lineages.

Change by challenge: A common genetic basis behind childhood cognitive development and cognitive training

“…We used the data available from a multi-trait analysis of GWAS 61 , which, in our case, represents a joint polygenic score focused on a GWAS of cognitive performance and complemented by information from a GWAS on educational attainment, a GWAS on the highest-level math class completed, and a GWAS on self-reported math ability (data called MTAG_CP by the consortium). This joint analysis is ideal because pairwise genetic correlations of these traits were high 22 .…”

Evolution of a Human-Specific Tandem Repeat Associated with ALS

“…5 Both of these VNTRs were studied because they were found in close proximity to a genome-wide association study signal for the associated disease. The high incidence of neurological disease in humans is partly attributed to rapid changes in genes involved in brain function, [6][7][8] and tandem repeats are proposed to contribute to these human-specific traits. 9 To better understand the role that tandem repeats could play in human-specific brain health and disease, we took a genome-wide approach, looking for VNTRs that expanded only in humans and exhibited far greater variability in a neurological disease population, as compared to the reference genome.…”

Genetic Variations in Evolutionary Accelerated Regions Disrupt Cognition in Schizophrenia

“…The complexity of the human brain plays a crucial role in developing improved cognitive functioning and has led to distinct patterns of behavior in humans compared to their primate relatives (Heyes 2012; Srinivasan et al 2018). During the course of evolution, humans have developed complex language (d’Errico et al 2003), executive functioning and abstract thinking (Barkley 2001).…”

“…It has been suggested that the genomic regions which are advantageous for the acquisition of important human traits such as language, complex cognitive skills and other favorable brain functions including behavioral flexibility also predispose to schizophrenia are also (Srinivasan et al 2016). Enrichment of recent evolutionary markers in the vicinity of schizophrenia (Xu et al 2015; Srinivasan et al 2016) and cognition (Srinivasan et al 2018) associated loci, suggest their involvement and importance for both these traits. Human accelerated regions (HARs) are one such class of genetic markers of recent evolution in humans.…”

“…The copyright holder for this preprint this version posted February 26, 2021. ; https://doi.org/10.1101/2021.02. 24.21252224 doi: medRxiv preprint Srinivasan et al 2016) and cognition (Srinivasan et al 2018) associated loci, suggest their involvement and importance for both these traits. Human accelerated regions (HARs) are one such class of genetic markers of recent evolution in humans.…”