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 Detalle_Publicacion

Genetic architecture of subcortical brain structures in 38,851 individuals

Abstract: Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Nature Genetics, 2019, 51(11), 1624-1636

Editorial: Nature Publishing Group

 Año de publicación: 2019

Nº de páginas: 19

Tipo de publicación: Artículo de Revista

 DOI: 10.1038/s41588-019-0511-y

ISSN: 1061-4036,1546-1718

Url de la publicación: https://doi.org/10.1038/s41588-019-0511-y

Autoría

SATIZABAL, CLAUDIA L.

ADAMS, HIEAB H. H.

HIBAR, DERREK P.

WHITE, CHARLES C.

KNOL, MARIA J.

STEIN, JASON L.

SCHOLZ, MARKUS

SARGURUPREMRAJ, MURALIDHARAN

JAHANSHAD, NEDA

ROSHCHUPKIN, GENNADY V.

SMITH, ALBERT V.

BIS, JOSHUA C.

JIAN, XUEQIU

LUCIANO, MICHELLE

HOFER, EDITH

TEUMER, ALEXANDER

LEE, SVEN J. VAN DER

ROBERTO ROIZ SANTIAÑEZ

DIANA TORDESILLAS GUTIERREZ

BENEDICTO CRESPO FACORRO