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. 2018 Aug 22;8(1):12585.
doi: 10.1038/s41598-018-30387-9.

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

Saurabh Srinivasan  1   2 , Francesco Bettella  1   2 , Oleksandr Frei  1   2 , W David Hill  3   4 , Yunpeng Wang  1   2 , Aree Witoelar  1   2 , Andrew J Schork  5 , Wesley K Thompson  6   5 , Gail Davies  3   4 , Rahul S Desikan  7 , Ian J Deary  3   4 , Ingrid Melle  1   2 , Torill Ueland  1   2 , Anders M Dale  8   9   10 , Srdjan Djurovic  11   12 , Olav B Smeland  1   2 , Ole A Andreassen  13   14
Affiliations

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

Saurabh Srinivasan et al. Sci Rep. .

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.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Figure 1
Figure 1
Fold enrichment plots of phenotypes stratified according to Neanderthal selective sweep score. Shown are the fold enrichment plots of GWAS summary statistics p-values for body mass index (BMI), college completion (College), educational attainment (EduYears), general cognitive ability (GCA1 and 2) and height stratified based on Neanderthal selective sweep (NSS) score. The human divergent (HD) stratum comprises single nucleotide polymorphisms (SNPs) with negative NSS scores. The non-divergent (ND) stratum comprises all SNPs with positive NSS scores. HD SNPs show some upward deflection from ND and all SNPs. This signifies a comparatively higher proportion of low p-values among HD SNPs.
Figure 2
Figure 2
Enrichment of associations with various traits stratified according to their affiliation to Post-Neanderthal selective sweep regions and brain genes. Fold enrichment plots for body mass index (BMI), college completion (College), educational attainment (EduYears), general cognitive ability (GCA1 and 2) and height. Plots are shown for variants annotated to human divergent regions (HD), variants annotated to generic genes (Any), variants annotated to genes with high expression in the brain (Brain), variants in HD regions annotated to genes with high expression in brain (HDBrain), and all variants (All SNPs). The HDBrain category is enriched (upward deflection) compared with the other categories (i.e., presents a higher incidence of associations [lower p -values]).
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