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

Autor: Charles DeCarli, Vilmundur Gudnason, Debra A. Fleischman, Henning Tiemeier, Rebecca F. Gottesman, William S. Kremen, Xueqiu Jian, Henry Brodaty, Maria del C. Valdés Hernández, Markus Loeffler, Reinhold Schmidt, Shahzad Ahmad, Paul A. Nyquist, Oscar L. Lopez, Anbupalam Thalamuthu, Helena Schmidt, Peter R. Schofield, Tonya White, Edith Hofer, Philip L. De Jager, David Ames, Qiong Yang, Ole A. Andreassen, Cora E. Lewis, Matthias Nauck, David S. Knopman, Anders M. Dale, Sven J. van der Lee, Jeroen van der Grond, Konstantinos Arfanakis, Margaret J. Wright, Jingyun Yang, John B.J. Kwok, Hieab H.H. Adams, Matthew S. Panizzon, Meike W. Vernooij, Yasaman Saba, David A. Bennett, Cornelia M. van Duijn, Tamara B. Harris, Pauline Maillard, Frauke Beyer, M. Arfan Ikram, Jerome I. Rotter, Ryan L. Muetzel, Tomáš Paus, Pamela J. Schreiner, Zdenka Pausova, Katharina Wittfeld, Diane M. Becker, Bruce M. Psaty, Alexander Teumer, Wei Wen, A. Veronica Witte, Karen A. Mather, Hanan El Marroun, William T. Longstreth, Perminder S. Sachdev, Mark E. Bastin, Nathan A. Gillespie, Kenneth Rice, Stella Trompet, Lisa R. Yanek, David J. Stott, Alexa S. Beiser, R. Nick Bryan, Alexander Neumann, Natalie A. Royle, Myriam Fornage, Manon Bernard, Dina Vojinovic, Najaf Amin, Ian J. Deary, Arno Villringer, Georg Homuth, Nicola J. Armstrong, Stephen Sidney, Sudha Seshadri, Joanna M. Wardlaw, Thomas H. Mosley, Hans J. Grabe, Michelle Luciano, Lenore J. Launer, J. Wouter Jukema, Robin Bülow, Markus Scholz, André G. Uitterlinden, Albert V. Smith, Shuo Li, Claudia L. Satizabal, Joshua C. Bis
Přispěvatelé: Epidemiology, Radiology & Nuclear Medicine, Child and Adolescent Psychiatry / Psychology, Clinical Psychology, Internal Medicine, Psychiatry, Neurology, Faculty of Medicine (UI), Læknadeild (HÍ), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands (HÍ), University of Iceland (UI)
Rok vydání: 2018
Předmět:
0301 basic medicine
Genetics of the nervous system
Cytoskeleton organization
General Physics and Astronomy
Genome-wide association study
Mental disorders
Genome-wide association studies
Genome
Lateral ventricles
0302 clinical medicine
Lateral Ventricles
Ventricle (lateral)
lcsh:Science
Genetics
anatomy & histology [Lateral Ventricles]
education.field_of_study
Enlargement
Multidisciplinary
Brain
Organ Size
Middle Aged
Schizophrenia
ddc:500
Science
Population
Elderly people
Biology
Article
General Biochemistry
Genetics and Molecular Biology

03 medical and health sciences
medicine
Erfðafræði
Humans
Genomes
education
Aged
Genetic association
genetics [Organ Size]
Genome
Human

Heilinn
Brain morphometry
Litningarannsóknir
Rannsóknir
General Chemistry
medicine.disease
030104 developmental biology
Heritable quantitative trait
lcsh:Q
030217 neurology & neurosurgery
Genome-Wide Association Study
Zdroj: Nature Communications
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Nature Communications, 9(1):3945. Nature Publishing Group
Nature Communications 9(1), 3945 (2018). doi:10.1038/s41467-018-06234-w
Vojinovic, D, Adams, H H, Jian, X, Yang, Q, Smith, A V, Bis, J C, Teumer, A, Scholz, M, Armstrong, N J, Hofer, E, Saba, Y, Luciano, M, Bernard, M, Trompet, S, Yang, J, Gillespie, N A, van der Lee, S J, Neumann, A, Ahmad, S, Andreassen, O A, Ames, D, Amin, N, Arfanakis, K, Bastin, M E, Becker, D M, Beiser, A S, Beyer, F, Brodaty, H, Bryan, R N, Bülow, R, Dale, A M, De Jager, P L, Deary, I J, DeCarli, C, Fleischman, D A, Gottesman, R F, van der Grond, J, Gudnason, V, Harris, T B, Homuth, G, Knopman, D S, Kwok, J B, Lewis, C E, Li, S, Loeffler, M, Lopez, O L, Maillard, P, El Marroun, H, Mather, K A, Mosley, T H, Muetzel, R L, Nauck, M, Nyquist, P A, Panizzon, M S, Pausova, Z, Psaty, B M, Rice, K, Rotter, J I, Royle, N, Satizabal, C L, Schmidt, R, Schofield, P R, Schreiner, P J, Sidney, S, Stott, D J, Thalamuthu, A, Uitterlinden, A G, Valdés Hernández, M C, Vernooij, M W, Wen, W, White, T, Witte, A V, Wittfeld, K, Wright, M J, Yanek, L R, Tiemeier, H, Kremen, W S, Bennett, D A, Jukema, J W, Paus, T, Wardlaw, J M, Schmidt, H, Sachdev, P S, Villringer, A, Grabe, H J, Longstreth, W T, van Duijn, C M, Launer, L J, Seshadri, S, Ikram, M A & Fornage, M 2018, ' Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume ', Nature Communications, vol. 9, no. 1, pp. 3945 . https://doi.org/10.1038/s41467-018-06234-w
Nature Communications, 9
Nature Communications, 9(1). Nature Publishing Group UK
Vojinovic, D, Adams, H H, Jian, X, Yang, Q, Smith, A V, Bis, J C, Teumer, A, Scholz, M, Armstrong, N J, Hofer, E, Saba, Y, Luciano, M, Bernard, M, Trompet, S, Yang, J, Gillespie, N A, Van Der Lee, S J, Neumann, A, Ahmad, S, Andreassen, O A, Ames, D, Amin, N, Arfanakis, K, Bastin, M E, Becker, D M, Beiser, A S, Beyer, F, Brodaty, H, Bryan, R N, Bülow, R, Dale, A M, De Jager, P L, Deary, I J, Decarli, C, Fleischman, D A, Gottesman, R F, Van Der Grond, J, Gudnason, V, Harris, T B, Homuth, G, Knopman, D S, Kwok, J B, Lewis, C E, Li, S, Loeffler, M, Lopez, O L, Maillard, P, El Marroun, H, Mather, K A, Mosley, T H, Muetzel, R L, Nauck, M, Nyquist, P A, Panizzon, M S, Pausova, Z, Psaty, B M, Rice, K, Rotter, J I, Royle, N, Satizabal, C L, Schmidt, R, Schofield, P R, Schreiner, P J, Sidney, S, Stott, D J, Thalamuthu, A, Uitterlinden, A G, Valdés Hernández, M C, Vernooij, M W, Wen, W, White, T, Witte, A V, Wittfeld, K, Wright, M J, Yanek, L R, Tiemeier, H, Kremen, W S, Bennett, D A, Jukema, J W, Paus, T, Wardlaw, J M, Schmidt, H, Sachdev, P S, Villringer, A, Grabe, H J, Longstreth, W T, Van Duijn, C M, Launer, L J, Seshadri, S, Ikram, M A & Fornage, M 2018, ' Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume ', Nature Communications, vol. 9, no. 1, 3945 . https://doi.org/10.1038/s41467-018-06234-w
ISSN: 2041-1723
Popis: Publisher's version (útgefin grein) Publisher's note: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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.
See Supplementary Note 2 for information on funding sources.
Databáze: OpenAIRE