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Novel genetic loci associated with hippocampal volume

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Hibar, Derrek P., Adams, Hieab H. H., Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L., Hofer, Edith, Renteria, Miguel E., Bis, Joshua C., Arias-Vasquez, Alejandro, Ikram, M. Kamran et al.
(2017) Novel genetic loci associated with hippocampal volume. Nature Communications, 8 . 13624 . doi:10.1038/ncomms13624 ISSN 2041-1723.

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Official URL: http://doi.org/10.1038/ncomms13624

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Abstract

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer’s disease (rg=−0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.

Item Type: Journal Article
Divisions: Faculty of Science, Engineering and Medicine > Science > Statistics
SWORD Depositor: Library Publications Router
Journal or Publication Title: Nature Communications
Publisher: Nature Publishing Group
ISSN: 2041-1723
Official Date: 18 January 2017
Dates:
DateEvent
18 January 2017Published
18 October 2017Accepted
Volume: 8
Article Number: 13624
DOI: 10.1038/ncomms13624
Status: Peer Reviewed
Publication Status: Published
Access rights to Published version: Open Access (Creative Commons)

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