The emergence of genetic variants linked to brain and cognitive traits in human evolution

Human evolution involved major anatomical transformations, including a rapid increase in brain volume over the last 2 million years. Examination of fossil records provides insight into these physical changes but offers limited information on the evolution of brain function and cognition. A complementary approach integrates genome dating from the Human Genome Dating Project with genome-wide association studies to trace the emergence of genetic variants linked to human traits over 5 million years. We find that genetic variants underlying cortical morphology (~300,000 years, P = 4 × 10-28), fluid intelligence (~500,000 years, P = 1.4 × 10-4), and psychiatric disorders (~475,000 years, P = 5.9 × 10-33) emerged relatively recently in hominin evolution. Among psychiatric phenotypes, variants associated with depression (~24,000 years, P = 1.6 × 10-4) and alcoholism-related traits (~40,000 years, P = 5.2 × 10-12) are the youngest. Genes with recent evolutionary modifications are involved in intelligence (P = 1.7 × 10-6) and cortical area (P = 3.5 × 10-4) and exhibit elevated expression in language-related areas (P = 7.1 × 10-4), a hallmark of human cognition. Our findings suggest that recently evolved genetic variants shaped the human brain, cognition, and psychiatric traits.