Novel genetic loci underlying human intracranial volume identified through genome-wide association

Adams, Hieab H H; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Rentería, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha; Desrivières, Sylvane; Beecham, Ashley H; Jahanshad, Neda; Wittfeld, Katharina; Van der Lee, Sven J; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S; ... (2016). Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature neuroscience, 19(12), pp. 1569-1582. Nature America 10.1038/nn.4398

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Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > University Psychiatric Services > University Hospital of Psychiatry and Psychotherapy > Translational Research Center

UniBE Contributor:

Papmeyer, Martina

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1097-6256

Publisher:

Nature America

Language:

English

Submitter:

Martina Papmeyer

Date Deposited:

16 Feb 2017 09:53

Last Modified:

19 Feb 2017 06:36

Publisher DOI:

10.1038/nn.4398

PubMed ID:

27694991

BORIS DOI:

10.7892/boris.92136

URI:

https://boris.unibe.ch/id/eprint/92136

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