Heritability of the shape of subcortical brain structures in the general population

Gennady V. Roshchupkin, Boris A. Gutman, Meike W. Vernooij, Neda Jahanshad, Nicholas G. Martin, Albert Hofman, Katie L. McMahon, Sven J. Van Der Lee, Cornelia M. van Duijn, Greig I. De Zubicaray, André G. Uitterlinden, Margaret J. Wright, Wiro J. Niessen, Paul M. Thompson, M. Arfan Ikram*, Hieab H. Adams

*Corresponding author for this work

    Research output: Contribution to journalArticleScientificpeer-review

    44 Citations (Scopus)
    36 Downloads (Pure)


    The volumes of subcortical brain structures are highly heritable, but genetic underpinnings of their shape remain relatively obscure. Here we determine the relative contribution of genetic factors to individual variation in the shape of seven bilateral subcortical structures: the nucleus accumbens, amygdala, caudate, hippocampus, pallidum, putamen and thalamus. In 3,686 unrelated individuals aged between 45 and 98 years, brain magnetic resonance imaging and genotyping was performed. The maximal heritability of shape varies from 32.7 to 53.3% across the subcortical structures. Genetic contributions to shape extend beyond influences on intracranial volume and the gross volume of the respective structure. The regional variance in heritability was related to the reliability of the measurements, but could not be accounted for by technical factors only. These findings could be replicated in an independent sample of 1,040 twins. Differences in genetic contributions within a single region reveal the value of refined brain maps to appreciate the genetic complexity of brain structures.

    Original languageEnglish
    Article number13738
    JournalNature Communications
    Publication statusPublished - 15 Dec 2016


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