PT  - JOURNAL ARTICLE
AU  - Amanda K. Tilot
AU  - Ekaterina A. Khramtsova
AU  - Katrina Grasby
AU  - Neda Jahanshad
AU  - Jodie Painter
AU  - Lucía Colodro-Conde
AU  - Janita Bralten
AU  - Derrek P. Hibar
AU  - Penelope A. Lind
AU  - Siyao Liu
AU  - Sarah M. Brotman
AU  - Paul M. Thompson
AU  - Sarah E. Medland
AU  - Fabio Macciardi
AU  - Barbara E. Stranger
AU  - Lea K. Davis
AU  - Simon E. Fisher
AU  - Jason L. Stein
TI  - The Evolutionary History of Common Genetic Variants Influencing Human Cortical Surface Area
AID  - 10.1101/703793
DP  - 2019 Jan 01
TA  - bioRxiv
PG  - 703793
4099  - http://biorxiv.org/content/early/2019/07/16/703793.short
4100  - http://biorxiv.org/content/early/2019/07/16/703793.full
AB  - Structural brain changes along the lineage that led to modern Homo sapiens have contributed to our unique cognitive and social abilities. However, the evolutionarily relevant molecular variants impacting key aspects of neuroanatomy are largely unknown. Here, we integrate evolutionary annotations of the genome at diverse timescales with common variant associations from large-scale neuroimaging genetic screens in living humans, to reveal how selective pressures have shaped neocortical surface area. We show that variation within human gained enhancers active in the developing brain is associated with global surface area as well as that of specific regions. Moreover, we find evidence of recent polygenic selection over the past 2,000 years influencing surface area of multiple cortical regions, including those involved in spoken language and visual processing.