Royal College of Surgeons in Ireland
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Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

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posted on 2021-04-26, 14:41 authored by Edith Hofer, Saud Alhusaini, Gianpiero CavalleriGianpiero Cavalleri, Norman DelantyNorman Delanty
Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.


Details of funding can be found on the original article under Supplementary Information ( See Supplementary Note 1, p31


Data Availability Statement

The genome-wide summary statistics that support the findings of this study are available via the CHARGE Summary Results portal at the NCBI dbGaP website upon publication, or from the corresponding authors R.S. and S.S. upon reasonable request. The summary statistics may be used for all scientific purposes except for the study of potentially sensitive and potentially stereotyping phenotypes such as intelligence and addiction, since this is proscribed by the consent terms for the NHLBI cohorts. Individual level data or study-specific summary results are only available through controlled access. Data for the Framingham Study are available through dbGaP, where qualified researchers can apply for authorization to access ( Individual level data for the ARIC and CHS studies are also available through dbGaP. Data of European and Australian cohorts are available upon request, in keeping with data sharing guidelines in the EU General Data Protection Regulation. Data from UK Biobank can be accessed at and for the ENIGMA consortium from Individual level data for VETSA is not available due to consent restrictions.


The original article is available at

Published Citation

Hofer E. et al. Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults. Nature Communications. 2020;11(1):4796.

Publication Date

22 September 2020

PubMed ID



  • Beaumont Hospital
  • FutureNeuro Centre
  • School of Pharmacy and Biomolecular Sciences

Research Area

  • Neurological and Psychiatric Disorders


Springer Nature Limited


  • Published Version (Version of Record)