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| Status |
Public on Feb 28, 2008 |
| Title |
Gene expression analysis in absence epilepsy using a monozygotic twin design |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Objective:
To identify genes involved in idiopathic absence epilepsies by analysing gene expression using a monozygotic (MZ) twin design.
Methods:
Genome-wide gene expression in lymphoblastoid cell lines was determined using microarrays derived from five discordant and four concordant MZ twin pairs with idiopathic absence epilepsies and five unaffected MZ twin pairs. Gene expression was analysed using three strategies: discordant MZ twins were compared as matched pairs, MZ twins concordant for epilepsy were compared to control MZ twins, and a singleton design of affected versus unaffected MZ twin individuals was used irrespective of twin pairing. An overlapping gene list was generated from these analyses. Dysregulation of genes recognised from the microarray experiment were validated using quantitative real time PCR (qRT-PCR) in the twin sample and in an independent sample of 18 sporadic absence cases and 24 healthy controls.
Results:
Sixty-five probe sets were identified from the microarray analysis strategies. Sixteen genes were chosen for validation and nine of these genes confirmed by qRT-PCR in the twin sample. Differential expression of the immediate early gene EGR1 and RCN2, coding for the calcium-binding protein Reticulocalbin 2, was re-confirmed by qRT-PCR in the independent sample.
Interpretation:
Using a unique sample of discordant MZ twins, our study identified genes with altered expression, which suggest novel mechanisms in idiopathic absence epilepsy. Dysregulation of EGR1 and RCN2 might represent common transcriptional alterations in idiopathic absence epilepsy.
Keywords: Childhood Absence Epilepsy, Juvenile Absence Epilepsy, Idiopathic Generalised Epilepsy, gene expression, twin study, monozygotic twins
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| Overall design |
Genome-wide gene expression in lymphoblastoid cell lines was determined using microarrays derived from five discordant and four concordant MZ twin pairs with idiopathic absence epilepsies and five unaffected MZ twin pairs.
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| Contributor(s) |
Matigian NA, Helbig I, Vadlamudi L, Lawrence KM, Zielinski M, Bain S, Diyagama D, Scheffer IE, Mulley JC, Holloway AJ, Dibbens LM, Berkovic SF, Hayward NK |
| Citation(s) |
18435749 |
| Submission date |
Apr 10, 2007 |
| Last update date |
Mar 25, 2019 |
| Contact name |
Nicholas Matigian |
| E-mail(s) |
n.matigian@griffith.edu.au
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| Phone |
61 7 38753660
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| Organization name |
National Adult Stem Cell Centre
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| Lab |
Systems Biology
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| Street address |
170 Kessels Rd, Nathan
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| City |
Brisbane |
| State/province |
Queensland |
| ZIP/Postal code |
4111 |
| Country |
Australia |
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| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
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| Samples (30)
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| GSM181371 |
LCL Discordant twin pair 1 (DCE1.1) (TP11) |
| GSM181372 |
LCL Discordant twin pair 1 (DCE1.2) (TP12) |
| GSM181373 |
LCL Discordant twin pair 2 (DCE2.1)(TP19) |
| GSM181374 |
LCL Discordant twin pair 2 (DCE2.2)(TP20) |
| GSM181375 |
LCL Discordant twin pair 3 (DCE3.1)(TP29) |
| GSM181376 |
LCL Discordant twin pair 3 (DCE3.2)(TP30) |
| GSM181377 |
LCL Discordant twin pair 4 (DCE4.1)(TP33) |
| GSM181378 |
LCL Discordant twin pair 4 (DCE4.2)(TP34) |
| GSM181379 |
LCL Discordant twin pair 5 (DCE5.1)(TP37) |
| GSM181380 |
LCL Discordant twin pair 5 (DCE5.2)(TP38) |
| GSM181381 |
LCL Concordant for Epilepsy twin pair 1 (CCE1.1)(TP21) |
| GSM181382 |
LCL Concordant for Epilepsy twin pair 1 (CCE1.2)(TP22) |
| GSM181384 |
LCL Concordant for Epilepsy twin pair 2 (CCE2.1)(TP31) |
| GSM181385 |
LCL Concordant for Epilepsy twin pair 2 (CCE2.2)(TP32) |
| GSM181389 |
LCL Concordant for Epilepsy twin pair 3 (CCE3.1)(TP35) |
| GSM181390 |
LCL Concordant for Epilepsy twin pair 3 (CCE3.2)(TP36) |
| GSM181391 |
LCL Concordant for Epilepsy twin pair 4 (CCE4.1)(TP39) |
| GSM181392 |
LCL Concordant for Epilepsy twin pair 4 (CCE4.2)(TP40) |
| GSM181395 |
LCL Unaffected MZ twin pair 1 (CCN1.1)(TP13) |
| GSM181396 |
LCL Unaffected MZ twin pair 1 (CCN1.2)(TP14) |
| GSM181399 |
LCL Unaffected MZ twin pair 1 (CCN1.1R)(TP15) |
| GSM181400 |
LCL Unaffected MZ twin pair 1 (CCN1.2R)(TP16) |
| GSM181405 |
LCL Unaffected MZ twin pair 2 (CCN2.1)(TP17) |
| GSM181406 |
LCL Unaffected MZ twin pair 2 (CCN2.2)(TP18) |
| GSM181409 |
LCL Unaffected MZ twin pair 3 (CCN3.1)(TP23) |
| GSM181410 |
LCL Unaffected MZ twin pair 3 (CCN3.2)(TP24) |
| GSM181412 |
LCL Unaffected MZ twin pair 4 (CCN4.1)(TP25) |
| GSM181413 |
LCL Unaffected MZ twin pair 4 (CCN4.2)(TP26) |
| GSM181416 |
LCL Unaffected MZ twin pair 5 (CCN5.1)(TP27) |
| GSM181417 |
LCL Unaffected MZ twin pair 5 (CCN5.2)(TP28) |
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| Relations |
| BioProject |
PRJNA100303 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE7486_RAW.tar |
150.4 Mb |
(http)(custom) |
TAR (of CEL, CHP) |
| Processed data provided as supplementary file |
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