GWAS of Cortical Structure published in Science

As part of the ENIGMA consortium, we published a large study to demonstrate how genetic variation in humans impacts cortical structure. We identified 199 loci that were significantly associated with cortical structure by a stringent criterion. We also found that those genetic variants that influence adult surface area are enriched in genomic regions active in progenitor cells during neuronal differentiation well before birth. This is evidence in humans supporting the Radial Unit Hypothesis, put forward by Pasko Rakic in the 1980s. In addition, there were genetic correlations detected between cortical surface area and several traits including cognitive abilities and ADHD. This implies that genetic variants that impact cortical structure also impact cortical function. You can find our work published here. This is a huge collaboration and wouldn’t be possible without the joint work of literally hundreds of scientists. We started the ENIGMA consortium about 10 years ago, and this is our latest and greatest work. It’s particularly exciting because the structure of the cortex allows us to have human specific abilities and disruption of cortical structure is thought to cause neuropsychiatric disorders.

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