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

2018 ◽  
Author(s):  
Olena Ohlei ◽  
Valerija Dobricic ◽  
Katja Lohmann ◽  
Christine Klein ◽  
Christina Lill ◽  
...  

AbstractBackground and objectivesDystonia 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 dystoniaMethodsFor 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.ResultsA 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.ConclusionsOur 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.

PLoS ONE ◽  
2015 ◽  
Vol 10 (5) ◽  
pp. e0124107 ◽  
Author(s):  
Chia-Ling Kuo ◽  
Olga A. Vsevolozhskaya ◽  
Dmitri V. Zaykin

2018 ◽  
Vol 21 (5) ◽  
pp. 333-346 ◽  
Author(s):  
Bianka Forgo ◽  
Emanuela Medda ◽  
Anita Hernyes ◽  
Laszlo Szalontai ◽  
David Laszlo Tarnoki ◽  
...  

Carotid atherosclerosis (CAS) is associated with increased cardiovascular risk, and therefore, assessing the genetic versus environmental background of CAS traits is of key importance. Carotid intima-media-thickness and plaque characteristics seem to be moderately heritable, with remarkable differences in both heritability and presence or severity of these traits among ethnicities. Although the considerable role of additive genetic effects is obvious, based on the results so far, there is an important emphasis on non-shared environmental factors as well. We aimed to collect and summarize the papers that investigate twin and family studies assessing the phenotypic variance attributable to genetic associations with CAS. Genes in relation to CAS markers were overviewed with a focus on genetic association studies and genome-wide association studies. Although the role of certain genes is confirmed by studies conducted on large populations and meta-analyses, many of them show conflicting results. A great focus should be on future studies elucidating the exact pathomechanism of these genes in CAS in order to imply them as novel therapeutic targets.


BioTechniques ◽  
2004 ◽  
Vol 37 (6) ◽  
pp. 977-985 ◽  
Author(s):  
Scott J. Tebbutt ◽  
Jian-Qing He ◽  
Kelly M. Burkett ◽  
Jian Ruan ◽  
Igor V. Opushnyev ◽  
...  

2011 ◽  
Vol 103 (16) ◽  
pp. 1227-1235 ◽  
Author(s):  
F. Chatzinasiou ◽  
C. M. Lill ◽  
K. Kypreou ◽  
I. Stefanaki ◽  
V. Nicolaou ◽  
...  

2010 ◽  
Vol 25 (11) ◽  
pp. 765-775 ◽  
Author(s):  
Stefania Boccia ◽  
Emma De Feo ◽  
Paola Gallì ◽  
Francesco Gianfagna ◽  
Rosarita Amore ◽  
...  

2012 ◽  
Vol 104 (19) ◽  
pp. 1433-1457 ◽  
Author(s):  
E. Theodoratou ◽  
Z. Montazeri ◽  
S. Hawken ◽  
G. C. Allum ◽  
J. Gong ◽  
...  

2013 ◽  
Vol 22 (5) ◽  
pp. 696-702 ◽  
Author(s):  
Han Zhang ◽  
Jianxin Shi ◽  
Faming Liang ◽  
William Wheeler ◽  
Rachael Stolzenberg-Solomon ◽  
...  

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