Published in

Nature Research, Nature Communications, 1(9), 2018

DOI: 10.1038/s41467-018-06234-w



Export citation

Search in Google Scholar

Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume

Journal article published in 2018 by Dina Vojinovic, Hieab H. Adams ORCID, Xueqiu Jian, Qiong Yang ORCID, Albert Vernon Smith ORCID, Joshua C. Bis, Alexander Teumer ORCID, Markus Scholz ORCID, Nicola J. Armstrong, Edith Hofer, Yasaman Saba, Michelle Luciano ORCID, Manon Bernard, Stella Trompet, Jingyun Yang and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Red circle
Postprint: archiving forbidden
Green circle
Published version: archiving allowed
Data provided by SHERPA/RoMEO


AbstractThe volume of the lateral ventricles (LV) increases with age and their abnormal enlargement is a key feature of several neurological and psychiatric diseases. Although lateral ventricular volume is heritable, a comprehensive investigation of its genetic determinants is lacking. In this meta-analysis of genome-wide association studies of 23,533 healthy middle-aged to elderly individuals from 26 population-based cohorts, we identify 7 genetic loci associated with LV volume. These loci map to chromosomes 3q28, 7p22.3, 10p12.31, 11q23.1, 12q23.3, 16q24.2, and 22q13.1 and implicate pathways related to tau pathology, S1P signaling, and cytoskeleton organization. We also report a significant genetic overlap between the thalamus and LV volumes (ρgenetic = −0.59, p-value = 3.14 × 10−6), suggesting that these brain structures may share a common biology. These genetic associations of LV volume provide insights into brain morphology.