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

Vojinovic, D., Adams, H. H., Jian, X., Yang, Q., Smith, A. V., Bis, J. C., et al. (2018). Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. Nature Communications, 9: 3945. doi:10.1038/s41467-018-06234-w.

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Vojinovic, Dina 1, Author
Adams, Hieab H. 1, Author
Jian, Xueqiu 1, Author
Yang, Qiong 1, Author
Smith, Albert Vernon 1, Author
Bis, Joshua C. 1, Author
Teumer, Alexander 1, Author
Scholz, Markus1, Author
Armstrong, Nicola J. 1, Author
Hofer, Edith1, Author
Saba, Yasaman 1, Author
Luciano, Michelle1, Author
Bernard, Manon 1, Author
Trompet, Stella 1, Author
Yang, Jingyun 1, Author
Gillespie, Nathan A. 1, Author
van der Lee, Sven J. 1, Author
Neumann, Alexander 1, Author
Ahmad, Shahzad 1, Author
Andreassen, Ole A. 1, Author
Ames, David 1, AuthorAmin, Najaf 1, AuthorArfanakis, Konstantinos 1, AuthorBastin, Mark E. 1, AuthorBecker, Diane M. 1, AuthorBeiser , Alexa S. 1, AuthorBeyer, Frauke2, Author              Brodaty, Henry 1, AuthorBryan, R. Nick 1, AuthorBülow, Robin 1, AuthorDale, Anders M. 1, AuthorDe Jager, Philip L. 1, AuthorDeary, Ian J. 1, AuthorDeCarli, Charles 1, AuthorFleischman, Debra A. 1, AuthorGottesman, Rebecca F. 1, Authorvan der Grond, Jeroen1, AuthorGudnason, Vilmundur 1, AuthorHarris, Tamara B. 1, AuthorHomuth, Georg 1, AuthorKnopman, David S. 1, AuthorKwok, John B. 1, AuthorLewis, Cora E. 1, AuthorLi, Shuo 1, AuthorLoeffler, Markus 1, AuthorLopez, Oscar L. 1, AuthorMaillard , Pauline 1, AuthorMarroun, Hanan El 1, AuthorMather, Karen A. 1, AuthorMosley, Thomas H. 1, AuthorMuetzel, Ryan L. 1, AuthorNauck, Matthias 1, AuthorNyquist, Paul A. 1, AuthorPanizzon, Matthew S. 1, AuthorPausova, Zdenka 1, AuthorPsaty, Bruce M. 1, AuthorRice, Ken 1, AuthorRotter, Jerome I. 1, AuthorRoyle, Natalie 1, AuthorSatizabal, Claudia L. 1, AuthorSchmidt, Reinhold 1, AuthorSchofield, Peter R. 1, AuthorSchreiner, Pamela J. 1, AuthorSidney, Stephen 1, AuthorStott, David J. 1, AuthorThalamuthu, Anbupalam 1, AuthorUitterlinden, Andre G. 1, AuthorValdés Hernández, Maria C. 1, AuthorVernooij, Meike W. 1, AuthorWen, Wei 1, AuthorWhite, Tonya 1, AuthorWitte, A. Veronica2, Author              Wittfeld, Katharina 1, AuthorWright, Margaret J. 1, AuthorYanek , Lisa R. 1, AuthorTiemeier, Henning 1, AuthorKremen, William S. 1, AuthorBennett, David A.1, AuthorJukema, J. Wouter 1, AuthorPaus, Tomas 1, AuthorWardlaw, Joanna M. 1, AuthorSchmidt, Helena 1, AuthorSachdev, Perminder S. 1, AuthorVillringer, Arno2, Author              Grabe, Hans Jörgen 1, AuthorLongstreth, W. T.1, Authorvan Duijn, Cornelia M. 1, AuthorLauner, Lenore J. 1, AuthorSeshadri, Sudha 1, AuthorIkram, M. Arfan 1, AuthorFornage, Myriam 1, Author more..
1External Organizations, ou_persistent22              
2Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634549              


Free keywords: Genetics of the nervous system; Genome-wide association studies; Heritable quantitative trait
 Abstract: The 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.


Language(s): eng - English
 Dates: 2017-10-252018-08-082018-09-26
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1038/s41467-018-06234-w
PMID: 30258056
PMC: 30258056
 Degree: -



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Title: Nature Communications
  Abbreviation : Nat. Commun.
Source Genre: Journal
Publ. Info: London : Nature Publishing Group
Pages: - Volume / Issue: 9 Sequence Number: 3945 Start / End Page: - Identifier: ISSN: 2041-1723
CoNE: https://pure.mpg.de/cone/journals/resource/2041-1723