Novel genetic loci underlying human intracranial volume identified

8 de November de 2016

The journal Nature Neuroscience has just published an article on a study, in which researchers from the Psychiatry group of the University of Cantabria-IDIVAL-CIBERSAM, led by Benedicto Crespo-Facorro, head of the IDIVAL Group of Psychiatry, Have identified five new sites in the genome, and replicated two previously described sites associated with intracranial volume.

The study was carried out in a sample of 32,348 adults using a complete genome association (GWAS) analysis in populations of two international research consortia, CHARGE and ENIGMA, among which are Cantabrian researchers.

 “We have focused on studying the genetic basis for determining the size of the brain in the early stages of development,” explains Crespo-Facorro, “and it really does seem that brain volume determines cognitive development in childhood And protection against cognitive degenerative diseases in adulthood. “

 “It is a topic of debate at international level and that leads us to place this research in one of the lines of maximum interest as it is to know what is the relationship between brain volume and cognitive function or predisposition to have neurodegenerative diseases in the age Adult, “adds the researcher.

 And indeed, as explained in the article, “there seems to be a significant genetic correlation both with the circumference of the cranial circumference and with cognitive functioning in infancy and adulthood. And, therefore, the size of the brain that is reached during development can be a marker that can determine cognitive functioning in childhood as in adult life, in relation to cognitive reserve brain. “

 Discussion about the influence of brain size

The differences in brain size between people are determined by genetic variants and also by the influence of environmental factors. There is a broad historical debate about whether the size of the brain has a direct impact on the intellectual capacity of the person.

 The knowledge of how genetic variants can determine these differences in size opens new lines of research in the knowledge of the biological determinants of brain development and, therefore, of neuropsychiatric disorders.

 According to the head of the research group in Psychiatry, “these genes described give us a new perspective on biological processes that determine how the volume of brain that is reached during development varies between individuals.”

 Thus, the cognitive reserve hypothesis states that brain size may be an element that modifies individual predisposition to suffer from age-related brain diseases.

 “Although not conclusively, these findings support the idea that variations in normal brain size may be important for the intellectual development of individuals and for predisposition to neurodegenerative diseases.”

Together with Crespo-Facorro, Head of Section of the Psychiatry Service of the University of Cantabria, Professor of Psychiatry of the UC and member of the Royal Medicine Academy of Cantabria, the researcher Roberto Roz Santiáñez and Diana Tordesillas, Responsible for the Neuroimaging Unit of IDIVAL.

The result is part of those obtained by the international consortium ENIGMA, in which the only Spanish representation is the Institute of Sanitary Research (IDIVAL) and the Center for Biomedical Research in Network in the Area of ​​Mental Health (CIBERSAM).

The ENIGMA consortium, created in 2009 by Drs. Paul Thompson and Nick Martin, comprises more than 300 scientists from 185 institutions and 33 countries sharing their resources to gain a better understanding of the effects of genes on brain structure and function. ENIGMA allows us to study brain, genetic and clinical data from 30,000 patients worldwide.


“Novel genetic loci underlying human intracranial volume identified through genome-wide association”

Adams HH, et al. 

Nat Neurosci. 2016 Oct 3. doi: 10.1038/nn.4398.