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| Status |
Public on May 27, 2010 |
| Title |
Blood expression profiles define penetrance in DYT1 dystonia patients |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
DYT1 dystonia is an autosomal-dominantly inherited movement disorder, which is usually caused by a GAG deletion in the TOR1A gene. Due to the reduced penetrance of ~30-40%, the determination of the mutation in a subject is of limited use with regard to actual manifestation of symptoms. In the present study, we used Affymetrix oligonucleotide microarrays to analyze global gene expression in blood samples of 15 manifesting and 15 non-manifesting mutation carriers in order to identify a susceptibility profile beyond the GAG deletion which is associated with the manifestation of symptoms in DYT1 dystonia.We identified a genetic signature which distinguished between asymptomatic mutation carriers and symptomatic DYT1 patients with 86.7% sensitivity and 100% specificity. This genetic signature could correctly predict the disease state in an independent test set with a sensitivity of 87.5% and a specificity of 85.7%.Conclusively, this genetic signature might provide a possibility to distinguish DYT1 patients from asymptomatic mutation carriers.
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| Overall design |
Comparison of whole blood expression profiles of patients with DYT1 dystonia with non manifesting mutation carriers and non mutation carriers
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| Contributor(s) |
Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K |
| Citation(s) |
20053375 |
| Submission date |
Dec 10, 2009 |
| Last update date |
Jul 26, 2018 |
| Contact name |
Michael H. Walter |
| E-mail(s) |
michael.walter@agilent.com
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| Organization name |
University of Tuebingen
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| Department |
Department of Medical Genetics
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| Lab |
The Microarray Facility Tübingen
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| Street address |
Calwer Str. 7
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| City |
Tuebingen |
| ZIP/Postal code |
72076 |
| Country |
Germany |
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| Platforms (1) |
| GPL6244 |
[HuGene-1_0-st] Affymetrix Human Gene 1.0 ST Array [transcript (gene) version] |
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| Samples (60)
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| GSM482873 |
whole blood, Control replicate 1, training set, batch 1 |
| GSM482874 |
whole blood, Carrier replicate 1, training set, batch 1 |
| GSM482875 |
whole blood, Control replicate 2, training set, batch 1 |
| GSM482876 |
whole blood, symptomatic replicate 1, training set, batch 1 |
| GSM482877 |
whole blood, Carrier replicate 2, training set, batch 1 |
| GSM482878 |
whole blood, Carrier replicate 3, training set, batch 1 |
| GSM482879 |
whole blood, Carrier replicate 4, training set, batch 1 |
| GSM482880 |
whole blood, Control replicate 3, training set, batch 1 |
| GSM482881 |
whole blood, Carrier replicate 5, training set, batch 1 |
| GSM482882 |
whole blood, Carrier replicate 6, training set, batch 1 |
| GSM482883 |
whole blood, Carrier replicate 7, training set, batch 1 |
| GSM482884 |
whole blood, Carrier replicate 8, training set, batch 1 |
| GSM482885 |
whole blood, symptomatic replicate 2, training set, batch 1 |
| GSM482886 |
whole blood, Carrier replicate 9, training set, batch 1 |
| GSM482887 |
whole blood, symptomatic replicate 3, training set, batch 1 |
| GSM482888 |
whole blood, Carrier replicate 10, training set, batch 1 |
| GSM482889 |
whole blood, Carrier replicate 11, training set, batch 1 |
| GSM482890 |
whole blood, symptomatic replicate 4, training set, batch 1 |
| GSM482891 |
whole blood, Carrier replicate 12, training set, batch 2 |
| GSM482892 |
whole blood, Carrier replicate 13, training set, batch 2 |
| GSM482893 |
whole blood, Carrier replicate 14, training set, batch 2 |
| GSM482894 |
whole blood, Carrier replicate 15, training set, batch 2 |
| GSM482895 |
whole blood, symptomatic replicate 5, training set, batch 2 |
| GSM482896 |
whole blood, symptomatic replicate 6, training set, batch 2 |
| GSM482897 |
whole blood, symptomatic replicate 7, training set, batch 2 |
| GSM482898 |
whole blood, symptomatic replicate 8, training set, batch 2 |
| GSM482899 |
whole blood, symptomatic replicate 9, training set, batch 2 |
| GSM482900 |
whole blood, symptomatic replicate 10, training set, batch 2 |
| GSM482901 |
whole blood, symptomatic replicate 11, training set, batch 2 |
| GSM482902 |
whole blood, symptomatic replicate 12, training set, batch 2 |
| GSM482903 |
whole blood, symptomatic replicate 13, training set, batch 2 |
| GSM482904 |
whole blood, symptomatic replicate 14, training set, batch 2 |
| GSM482905 |
whole blood, symptomatic replicate 15, training set, batch 2 |
| GSM482906 |
whole blood, Control replicate 4, training set, batch 2 |
| GSM482907 |
whole blood, Control replicate 5, training set, batch 2 |
| GSM482908 |
whole blood, Control replicate 6, training set, batch 2 |
| GSM482909 |
whole blood, Control replicate 7, training set, batch 2 |
| GSM482910 |
whole blood, Control replicate 8, training set, batch 2 |
| GSM482911 |
whole blood, Control replicate 9, training set, batch 2 |
| GSM482912 |
whole blood, Carrier replicate 1, test set, batch 3 |
| GSM482913 |
whole blood, Carrier replicate 2, test set, batch 3 |
| GSM482914 |
whole blood, symptomatic replicate 1, test set, batch 3 |
| GSM482915 |
whole blood, symptomatic replicate 2, test set, batch 3 |
| GSM482916 |
whole blood, control replicate 1, test set, batch 3 |
| GSM482917 |
whole blood, symptomatic replicate 3, test set, batch 3 |
| GSM482918 |
whole blood, control replicate 2, test set, batch 3 |
| GSM482919 |
whole blood, symptomatic replicate 4, test set, batch 3 |
| GSM482920 |
whole blood, symptomatic replicate 5, test set, batch 3 |
| GSM482921 |
whole blood, control replicate 3, test set, batch 3 |
| GSM482922 |
whole blood, control replicate 4, test set, batch 3 |
| GSM482923 |
whole blood, control replicate 5, test set, batch 3 |
| GSM482924 |
whole blood, control replicate 6, test set, batch 3 |
| GSM482925 |
whole blood, symptomatic replicate 6, test set, batch 3 |
| GSM482926 |
whole blood, symptomatic replicate 7, test set, batch 3 |
| GSM482927 |
whole blood, symptomatic replicate 8, test set, batch 3 |
| GSM482928 |
whole blood, Carrier replicate 3, test set, batch 3 |
| GSM482929 |
whole blood, Carrier replicate 4, test set, batch 3 |
| GSM482930 |
whole blood, Carrier replicate 5, test set, batch 3 |
| GSM482931 |
whole blood, Carrier replicate 6, test set, batch 3 |
| GSM482932 |
whole blood, Carrier replicate 7, test set, batch 3 |
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| Relations |
| BioProject |
PRJNA120355 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE19419_RAW.tar |
220.5 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
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