AI Article Synopsis
- * Neuroimaging reveals that many of these genetic variants have widespread effects on brain regions and are linked to various cancers and specific signaling pathways, such as p53 and Wnt.
- * The findings suggest a connection between the genes that regulate head size and the likelihood of cancer, emphasizing the need for further research on the implications of this relationship.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148644 | PMC |
| http://dx.doi.org/10.1016/j.xcrm.2024.101529 | DOI Listing |
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