TY - JOUR
T1 - Novel genetic loci underlying human intracranial volume identified through genome-wide association
AU - Adams, Hieab H.H.
AU - Hibar, Derrek P.
AU - Chouraki, Vincent
AU - Stein, Jason L.
AU - Nyquist, Paul A.
AU - Rentería, Miguel E.
AU - Trompet, Stella
AU - Arias-Vasquez, Alejandro
AU - Seshadri, Sudha
AU - Desrivières, Sylvane
AU - Beecham, Ashley H.
AU - Jahanshad, Neda
AU - Wittfeld, Katharina
AU - Van Der Lee, Sven J.
AU - Abramovic, Lucija
AU - Alhusaini, Saud
AU - Amin, Najaf
AU - Andersson, Micael
AU - Arfanakis, Konstantinos
AU - Aribisala, Benjamin S.
AU - Armstrong, Nicola J.
AU - Athanasiu, Lavinia
AU - Axelsson, Tomas
AU - Beiser, Alexa
AU - Bernard, Manon
AU - Bis, Joshua C.
AU - Blanken, Laura M.E.
AU - Blanton, Susan H.
AU - Bohlken, Marc M.
AU - Boks, Marco P.
AU - Bralten, Janita
AU - Brickman, Adam M.
AU - Carmichael, Owen
AU - Chakravarty, M. Mallar
AU - Chauhan, Ganesh
AU - Chen, Qiang
AU - Ching, Christopher R.K.
AU - Cuellar-Partida, Gabriel
AU - Braber, Anouk Den
AU - Doan, Nhat Trung
AU - Ehrlich, Stefan
AU - Filippi, Irina
AU - Ge, Tian
AU - Giddaluru, Sudheer
AU - Goldman, Aaron L.
AU - Gottesman, Rebecca F.
AU - Greven, Corina U.
AU - Grimm, Oliver
AU - Griswold, Michael E.
AU - Mather, Karen A.
N1 - Publisher Copyright:
© 2016 Nature America, Inc., part of Springer Nature. All rights reserved.
PY - 2016/12/1
Y1 - 2016/12/1
N2 - 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 (genetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (N combined = 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.
AB - 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 (genetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (N combined = 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.
UR - http://www.scopus.com/inward/record.url?scp=84989867010&partnerID=8YFLogxK
U2 - 10.1038/nn.4398
DO - 10.1038/nn.4398
M3 - Article
C2 - 27694991
AN - SCOPUS:84989867010
SN - 1097-6256
VL - 19
SP - 1569
EP - 1582
JO - Nature Neuroscience
JF - Nature Neuroscience
IS - 12
ER -