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Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia

Olena Ohlei, Valerija Dobricic, Katja Lohmann, Christine Klein, Christina Lill, Lars Bertram
doi: https://doi.org/10.1101/306522
Olena Ohlei
aLübeck Interdisciplinary Platform for Genome Analytics, Institutes of Neurogenetics and Cardiogenetics, University of Lübeck, Lübeck, Germany.
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Valerija Dobricic
aLübeck Interdisciplinary Platform for Genome Analytics, Institutes of Neurogenetics and Cardiogenetics, University of Lübeck, Lübeck, Germany.
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Katja Lohmann
aLübeck Interdisciplinary Platform for Genome Analytics, Institutes of Neurogenetics and Cardiogenetics, University of Lübeck, Lübeck, Germany.
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Christine Klein
bInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
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Christina Lill
bInstitute of Neurogenetics, University of Lübeck, Lübeck, Germany.
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Lars Bertram
aLübeck Interdisciplinary Platform for Genome Analytics, Institutes of Neurogenetics and Cardiogenetics, University of Lübeck, Lübeck, Germany.
cSchool of Public Health, Faculty of Medicine, Imperial College, London, UK.
dDept of Psychology, University of Oslo, Oslo, Norway.
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  • For correspondence: lars.bertram@uni-luebeck.de
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Abstract

Background and objectives Dystonia is a genetically complex disease with both monogenic and polygenic causes. For the latter, numerous genetic associations studies have been performed with largely inconsistent results. The aim of this study was to perform a field synopsis including systematic meta-analyses of genetic association studies in isolated dystonia

Methods For the field synopsis we systematically screened and scrutinized the published literature using NCBI’s PubMed database. For genetic variants with sufficient information in at least two independent datasets, random-effects meta-analyses were performed, including meta-analyses stratified by ethnic descent and dystonia subtypes.

Results A total of 3,575 articles were identified and scrutinized resulting in the inclusion of 42 independent publications allowing 134 meta-analyses on 45 variants across 17 genes. While our meta-analyses pinpointed several significant association signals with variants in TOR1A, DRD1, and ARSG, no single variant displayed compelling association with dystonia in the available data.

Conclusions Our study provides an up-to-date summary of the status of dystonia genetic association studies. Additional large-scale studies are needed to better understand the genetic causes of isolated dystonia.

Footnotes

  • Funding: This study was supported by the German Research Foundation (DFG grant FOR2488: Main support by subproject “P6” BE2287/6-1 to LB; additional support by subprojects “P7” LI2654/2-1 to CML, “Z1” KL1134/17-1 to CK, and “P4” LO1555/9-1 to KL).

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted April 23, 2018.
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Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia
Olena Ohlei, Valerija Dobricic, Katja Lohmann, Christine Klein, Christina Lill, Lars Bertram
bioRxiv 306522; doi: https://doi.org/10.1101/306522
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Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia
Olena Ohlei, Valerija Dobricic, Katja Lohmann, Christine Klein, Christina Lill, Lars Bertram
bioRxiv 306522; doi: https://doi.org/10.1101/306522

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