Internet Archive Scholar

The impact of rare protein coding genetic variation on adult cognitive function [article]

Chia-Yen Chen, Ruoyu Tian, Tian Ge, Max Lam, Gabriela Sanchez-Andrade, Tarjinder Singh, Lea Urpa, Jimmy Liu, Mark Sanderson, Christine Rowley, Holly Ironfield, Terry Fang (+11 others)
2022 medRxiv   pre-print

Preserved Fulltext

fulltext thumbnail
Web Archive Capture PDF (1.3 MB)
https://web.archive.org/web/20220702015440/https://www.medrxiv.org/content/medrxiv/early/2022/06/26/2022.06.24.22276728.full.pdf

A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2022; you can also visit the original URL. The file type is application/pdf.

Compelling evidence suggests that cognitive function is strongly influenced by genetics. Here, we conduct a large-scale exome study to examine whether rare protein coding variants impact cognitive function in the adult population (N=485,930). We identify eight genes associated with adult cognitive function through rare coding variants with large effects. We demonstrate how the dosage of a single gene, KDM5B, may determine the variability of cognitive, behavioral, and molecular traits in mice
more » ... humans. We further provide evidence that rare and common variants overlap in association signals and contribute additively to cognitive function. Our findings uncover a contribution of rare coding variants to cognitive function and highlight that the spectrum of cognitive function in the normal adult population is influenced by the action of single genes.
doi:10.1101/2022.06.24.22276728 fatcat:rbkvl7uhxbd3pld4hmpnvuuzke
Citation

Chia-Yen Chen, Ruoyu Tian, Tian Ge, Max Lam, Gabriela Sanchez-Andrade, Tarjinder Singh, Lea Urpa, Jimmy Liu, Mark Sanderson, Christine Rowley, Holly Ironfield, Terry Fang, Mark Daly, Aarno Palotie, Ellen A. Tsai, Hailiang Huang, Matthew E. Hurles, Sebastian S. Gerety, Todd Lencz, Heiko Runz, Biogen Biobank Team, the SUPER-Finland study, the Northern Finland Intellectual Disability study. "The impact of rare protein coding genetic variation on adult cognitive function." medRxiv (2022)