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

TitleHeritability of the shape of subcortical brain structures in the general population.
Publication TypeJournal Article
Year of Publication2016
AuthorsRoshchupkin, GV, Gutman, BA, Vernooij, MW, Jahanshad, N, Martin, NG, Hofman, A, McMahon, KL, van der Lee, SJ, van Duijn, CM, de Zubicaray, GI, Uitterlinden, AG, Wright, MJ, Niessen, WJ, Thompson, PM, M Ikram, A, Adams, HHH
JournalNat Commun
Date Published2016 12 15
KeywordsAdult, Aged, Aged, 80 and over, Amygdala, Brain, Caudate Nucleus, Female, Genotype, Globus Pallidus, Hippocampus, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Nucleus Accumbens, Organ Size, Putamen, Reproducibility of Results, Thalamus, Twins, Dizygotic, Twins, Monozygotic, Young Adult

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.

Alternate JournalNat Commun
PubMed ID27976715
PubMed Central IDPMC5172387
Grant ListR01 AG040060 / AG / NIA NIH HHS / United States
RF1 AG041915 / AG / NIA NIH HHS / United States
U54 EB020403 / EB / NIBIB NIH HHS / United States