Common genetic variation indicates separate etiologies for periventricular and deep white matter hyperintensities
By
Nicola J. Armstrong,
Karen A. Mather,
Muralidharan Sargurupremraj,
Maria J. Knol,
Rainer Malik,
Claudia L Satizabal,
Lisa R. Yanek,
Wen Wei,
Vilmundur Gudnason,
Nicole D Deuker,
Lloyd T. Elliott,
Edith Hofer,
Neda Jahanshad,
Shuo Li,
Mark A Logue,
Michelle Luciano,
Markus Scholz,
Albert Smith,
Stella S Trompet,
Dina Vojinovic,
Rui Xia,
Fidel Alfaro-Almagro,
David Ames,
Najaf Amin,
Philippe Amouyel,
Alexa S. Beiser,
Henry Brodaty,
I.J. Deary,
Christine Fennema-Notestine,
Piyush G Gampwar,
Rebecca Gottesman,
Ludovica Griffanti,
Clifford R. Jack,
Mark Jenkinson,
Jiyang Jain,
Brian G Kral,
John B. Kwok,
Leonie Lampe,
David CM Liewald,
Pauline Maillard,
Jonathan Marchini,
M.E. Bastin,
Bernard Mazoyer,
Lukas Pirpamer,
José Rafael Romero,
Gennady V. Roshchupkin,
Peter R Schofield,
Matthias L Schroeter,
David J. Stott,
Anbupalam Thalamuth,
Julian Trollor,
Christophe Tzourio,
Jeroen van der Grond,
Meike W Vernooij,
Veronica A Witte,
Maragret J Wright,
Qiong Yang,
Moris Zoe,
Siggi Siggurdsson,
Arno Villringer,
Helena Schmidt,
Asta L Haberg,
Cornelia M Van Duijn,
J. Wouter Jukema,
Martin Dichigans,
Ralph L Sacco,
Clinton B Wright,
William S Kremen,
Lewis C. Becker,
Paul M. Thompson,
Lenore Launer,
Thomas H Mosley,
Joanna M. Wardlaw,
M Afran Ikram,
Hieab H.H. Adams,
Reinhold Schmidt,
Stephen M. Smith,
Charles Decarli,
Perminder S Sachdev,
Myriam Fornage,
Stephanie Debbette,
Sudha Seshadri,
Paul A Nyquist
Posted 27 Jun 2019
bioRxiv DOI: 10.1101/683367
We conducted a genome-wide association meta-analysis of two ischemic white matter disease subtypes in the brain, periventricular and deep white matter hyperintensities (PVWMH and DWMH). In 26,654 participants, we found 10 independent genome-wide significant loci only associated with PVWMH, four of which have not been described previously for total WMH burden (16q24.2, 17q21.31, 10q23.1, 7q36.1). Additionally, in both PVWMH and DWMH we observed the previous association of the 17q25.1 locus with total WMH. We found that both phenotypes have shared but also distinct genetic architectures, consistent with both different underlying and related pathophysiology. PVWMH had more extensive genetic overlap with small vessel ischemic stroke, and unique associations with several loci implicated in ischemic stroke. DWMH were characterized by associations with loci previously implicated in vascular as well as astrocytic and neuronal function. Our study confirms the utility of these phenotypes and identifies new candidate genes associated only with PVWMH.
Download data
- Downloaded 342 times
- Download rankings, all-time:
- Site-wide: 47,792 out of 89,956
- In neuroscience: 8,394 out of 16,002
- Year to date:
- Site-wide: 30,601 out of 89,956
- Since beginning of last month:
- Site-wide: 19,778 out of 89,956
Altmetric data
Downloads over time
Distribution of downloads per paper, site-wide
PanLingua
News
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!