Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F24%3A10485726" target="_blank" >RIV/00064165:_____/24:10485726 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/24:10485726
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=iRB7~-tuDq" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=iRB7~-tuDq</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/mds.29968" target="_blank" >10.1002/mds.29968</a>
Alternative languages
Result language
angličtina
Original language name
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies
Original language description
Background: Despite considerable heritability, previous smaller genome-wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia. Objective: The objective of this study was to perform a large-scale GWAS in a well-characterized, multicenter sample of >6000 individuals to identify genetic risk factors for isolated dystonia. Methods: Array-based GWASs were performed on autosomes for 4303 dystonia participants and 2362 healthy control subjects of European ancestry with subgroup analysis based on age at onset, affected body regions, and a newly developed clinical score. Another 736 individuals were used for validation. Results: This GWAS identified no common genome-wide significant loci that could be replicated despite sufficient power to detect meaningful effects. Power analyses imply that the effects of individual variants are likely very small. Conclusions: Moderate single-nucleotide polymorphism-based heritability indicates that common variants do not contribute to isolated dystonia in this cohort. Sequence-based GWASs (eg, by whole-genome sequencing) might help to better understand the genetic basis. (C) 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/LX22NPO5107" target="_blank" >LX22NPO5107: National institute for Neurological Research</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Movement Disorders
ISSN
0885-3185
e-ISSN
1531-8257
Volume of the periodical
39
Issue of the periodical within the volume
11
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
2110-2116
UT code for WoS article
001314416700001
EID of the result in the Scopus database
2-s2.0-85204039570