Genetic variants for head size share genes and pathways with cancer
TSUCHIDA, Ami
Institut des Maladies Neurodégénératives [Bordeaux] [IMN]
Bordeaux population health [BPH]
< Réduire
Institut des Maladies Neurodégénératives [Bordeaux] [IMN]
Bordeaux population health [BPH]
Langue
EN
Article de revue
Ce document a été publié dans
Cell Reports Medicine. 2024-05-21, vol. 5, n° 5, p. 101529
Résumé en anglais
The size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped. We perform a genome-wide association study on head size (N = 80,890) and identify 67 genetic ...Lire la suite >
The size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped. We perform a genome-wide association study on head size (N = 80,890) and identify 67 genetic loci, of which 50 are novel. Neuroimaging studies show that 17 variants affect specific brain areas, but most have widespread effects. Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways. Genes harboring lead variants are enriched for macrocephaly syndrome genes (37-fold) and high-fidelity cancer genes (9-fold), which is not seen for human height variants. Head size variants are also near genes preferentially expressed in intermediate progenitor cells, neural cells linked to evolutionary brain expansion. Our results indicate that genes regulating early brain and cranial growth incline to neoplasia later in life, irrespective of height. This warrants investigation of clinical implications of the link between head size and cancer.< Réduire
Mots clés en anglais
Cancer
Genetics
Genome-Wide Association Study
Head Circumference
Head Size
Intracranial Volume
Meta-Analysis
Project ANR
COGINUT : Cognition, anti-oxydants, acides gras: approche interdisciplinaire du rôle de la nutrition dans le vieillissement du cerveau
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