Heritability of Subcortical Grey Matter Structures

Strelnikov, David and Alijanpourotaghsara, Amirreza and Piroska, Marton and Szalontai, Laszlo and Forgó, Bianka and Jokkel, Zsofia and Persely, Alíz and Hernyes, Anita and Kozák, Lajos R. and Szabó, Ádám György and Maurovich-Horváth, Pál and Tárnoki, Dávid László and Tárnoki, Ádám Domonkos (2022) Heritability of Subcortical Grey Matter Structures. Medicina. ISSN 1010-660X (Submitted)

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Abstract

Introduction: Subcortical grey matter structures play essential roles in cognitive, affective, social, and motoric functions in humans. Their volume changes with age and decreased volumes have been linked with many neuropsychiatric disorders. The aim of our study was to examine the heritability of six subcortical brain volumes; the amygdala, caudate nucleus, pallidum, putamen, thalamus, and nucleus accumbens, and four general brain volumes; total intracranial volume, grey matter, white matter, and cerebrospinal fluid (CSF) volume in twins. Materials and Methods: 120 healthy adult twins from the Hungarian Twin Registry (86 monozygotic and 34 dizygotic; median age 50±26.5 years) underwent brain magnetic resonance imaging. Two volumetry pipelines, Computational Anatomy Toolbox 12 (CAT12) and volBrain were used to calculate subcortical and general brain volumes from three-dimensional T1-weighted images. Age- and sex-adjusted monozygotic and dizygotic intra-pair correlations were calculated and the univariate ACE model was applied. Pearson’s correlation test was used to compare the results obtained by the two pipelines. Results: Age- and sex-adjusted heritability estimates for the four general brain volumes were 0.78- 0.93 and 0.89-0.94 using CAT12 and volBrain, respectively. Heritability estimates, using CAT12 for the amygdala, caudate nucleus, pallidum, putamen, and nucleus accumbens were between 0.76- 0.95. The thalamus volume was more strongly influenced by common environmental factors (C=0.49-0.74). Heritability estimates, using volBrain were between 0.73-0.92 for the nucleus accumbens, pallidum, putamen, right amygdala and right caudate. The left caudate, left amygdala and thalamus were more strongly influenced by common environmental factors (C=0.49-0.86). A strong correlation between CAT12 and volBrain (r=0.74-0.94) was obtained for all volumes. Conclusions: The majority of examined subcortical volumes appeared strongly heritable. The thalamus was more strongly influenced by common environmental factors. Our results underline the importance of identifying relevant genes responsible for the variation in subcortical structure volume and associated diseases.

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