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Primus, S.A. ; Hoffstaedter, F.* ; Raimondo, F.* ; Eickhoff, S.B.* ; Winkelmann, J. ; Oexle, K. ; Patil, K.R.*

Beyond volume: Unraveling the genetics of human brain geometry.

Sci. Adv. 11:eadr1644 (2025)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Brain geometry affects brain function. A quantitative encoding of form is provided by the Laplace-Beltrami operator's spectrum of eigenvalues (LBS). We examined LBS genetics of 22 subcortical brain structures and cerebellum in 19,862 healthy White-British UK Biobank participants by multivariate genome-wide association study on the first 49 eigenvalues each. Controlling for surface and volume, we identified 80 unique variants influencing the shapes of one or several structures, with the highest yield (37 variants) for brain stem. The previously known influence of several of these loci on basic morphology, such as volume, is thus shown to also influence complex shape. Known associations of observed loci with blood pressure, neurodegeneration, alcohol consumption, and mental disorders hint at preclinical stages of these conditions potentially mediating the genetic effect on brain morphology. Significant correlations between LBS of several brain structures and the polygenic risks of hypertension, ischemic stroke, and schizophrenia evince brain shapes as early biomarkers.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Single-nucleotide Polymorphisms; Genome-wide Association; Surface-based Analysis; Alzheimers-disease; Tau Gene; Supranuclear; Haplotype; Shape; Segmentation; Architecture
Sprache englisch
Veröffentlichungsjahr 2025
HGF-Berichtsjahr 2025
ISSN (print) / ISBN 2375-2548
e-ISSN 2375-2548
Zeitschrift Science Advances
Quellenangaben Band: 11, Heft: 24, Seiten: , Artikelnummer: eadr1644 Supplement: ,
Verlag American Association for the Advancement of Science (AAAS)
Verlagsort Washington, DC [u.a.]
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Helmholtz AI - FZJ (HAI - FZJ)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
Förderungen Helmholtz Imaging grant (BrainShapes)
Helmholtz Imaging grant (NimRLS)
DOI 10.1126/sciadv.adr1644
WOS ID 001508114400004
Scopus ID 105008515661
PubMed ID 40512868
Erfassungsdatum 2025-06-17
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