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A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

der Zee J van, I Gijselinck, L Dillen, Langenhove T Van, J Theuns, S Engelborghs, S Philtjens, M Vandenbulcke, K Sleegers, A Sieben, V Baumer, G Maes, E Corsmit, B Borroni, A Padovani, S Archetti, R Perneczky, J Diehl-Schmid, Mendonca A de, G...

. 2013 ; 34 (2) : 363-373.

Jazyk angličtina Země Spojené státy americké

Perzistentní odkaz   https://www.medvik.cz/link/bmc18035065

Grantová podpora
NT12094 MZ0 CEP - Centrální evidence projektů

We assessed the geographical distribution of C9orf72 G(4) C(2) expansions in a pan-European frontotemporal lobar degeneration (FTLD) cohort (n = 1,205), ascertained by the European Early-Onset Dementia (EOD) consortium. Next, we performed a meta-analysis of our data and that of other European studies, together 2,668 patients from 15 Western European countries. The frequency of the C9orf72 expansions in Western Europe was 9.98% in overall FTLD, with 18.52% in familial, and 6.26% in sporadic FTLD patients. Outliers were Finland and Sweden with overall frequencies of respectively 29.33% and 20.73%, but also Spain with 25.49%. In contrast, prevalence in Germany was limited to 4.82%. In addition, we studied the role of intermediate repeats (7-24 repeat units), which are strongly correlated with the risk haplotype, on disease and C9orf72 expression. In vitro reporter gene expression studies demonstrated significantly decreased transcriptional activity of C9orf72 with increasing number of normal repeat units, indicating that intermediate repeats might act as predisposing alleles and in favor of the loss-of-function disease mechanism. Further, we observed a significantly increased frequency of short indels in the GC-rich low complexity sequence adjacent to the G(4) C(2) repeat in C9orf72 expansion carriers (P < 0.001) with the most common indel creating one long contiguous imperfect G(4) C(2) repeat, which is likely more prone to replication slippage and pathological expansion.Copyright © 2012 Wiley Periodicals, Inc.

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$a A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats / $c der Zee J van, I Gijselinck, L Dillen, Langenhove T Van, J Theuns, S Engelborghs, S Philtjens, M Vandenbulcke, K Sleegers, A Sieben, V Baumer, G Maes, E Corsmit, B Borroni, A Padovani, S Archetti, R Perneczky, J Diehl-Schmid, Mendonca A de, G Miltenberger-Miltenyi, S Pereira, J Pimentel, B Nacmias, S Bagnoli, S Sorbi, C Graff, HH Chiang, M Westerlund, R Sanchez-Valle, A Llado, E Gelpi, I Santana, MR Almeida, B Santiago, G Frisoni, O Zanetti, C Bonvicini, M Synofzik, W Maetzler, Hagen JM Vom, L Schols, MT Heneka, F Jessen, R Matej, E Parobkova, GG Kovacs, T Strobel, S Sarafov, I Tournev, A Jordanova, A Danek, T Arzberger, GM Fabrizi, S Testi, E Salmon, P Santens, JJ Martin, P Cras, R Vandenberghe, Deyn PP De, M Cruts, Broeckhoven C Van, der Zee J van, I Gijselinck, L Dillen, Langenhove T Van, J Theuns, S Philtjens, K Sleegers, V Baumer, G Maes, E Corsmit, M Cruts, Broeckhoven C Van, der Zee J van, I Gijselinck, L Dillen, Langenhove T Van, S Philtjens, J Theuns, K Sleegers, V Baumer, G Maes, M Cruts, Broeckhoven C Van, S Engelborghs, Deyn PP De, P Cras, S Engelborghs, Deyn PP De, M Vandenbulcke, M Vandenbulcke, B Borroni, A Padovani, S Archetti, R Perneczky, J Diehl-Schmid, M Synofzik, W Maetzler, Vom Hagen J Muller, L Schols, M Synofzik, W Maetzler, Vom Hagen J Muller, L Schols, MT Heneka, F Jessen, A Ramirez, D Kurzwelly, C Sachtleben, W Mairer, Mendonca A de, G Miltenberger-Miltenyi, S Pereira, C Firmo, J Pimentel, R Sanchez-Valle, A Llado, A Antonell, J Molinuevo, E Gelpi, C Graff, HH Chiang, M Westerlund, C Graff, Stahlbom A Kinhult, H Thonberg, I Nennesmo, A Borjesson-Hanson, B Nacmias, S Bagnoli, S Sorbi, V Bessi, I Piaceri, I Santana, B Santiago, I Santana, Ribeiro M Helena, Almeida M Rosario, C Oliveira, J Massano, C Garret, P Pires, G Frisoni, O Zanetti, C Bonvicini, S Sarafov, I Tournev, A Jordanova, I Tournev, GG Kovacs, T Strobel, MT Heneka, F Jessen, A Ramirez, D Kurzwelly, C Sachtleben, W Mairer, F Jessen, R Matej, E Parobkova, A Danel, T Arzberger, Fabrizi G Maria, S Testi, S Ferrari, T Cavallaro, E Salmon, P Santens, P Cras, Early-Onset Dementia Consortium European
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$a We assessed the geographical distribution of C9orf72 G(4) C(2) expansions in a pan-European frontotemporal lobar degeneration (FTLD) cohort (n = 1,205), ascertained by the European Early-Onset Dementia (EOD) consortium. Next, we performed a meta-analysis of our data and that of other European studies, together 2,668 patients from 15 Western European countries. The frequency of the C9orf72 expansions in Western Europe was 9.98% in overall FTLD, with 18.52% in familial, and 6.26% in sporadic FTLD patients. Outliers were Finland and Sweden with overall frequencies of respectively 29.33% and 20.73%, but also Spain with 25.49%. In contrast, prevalence in Germany was limited to 4.82%. In addition, we studied the role of intermediate repeats (7-24 repeat units), which are strongly correlated with the risk haplotype, on disease and C9orf72 expression. In vitro reporter gene expression studies demonstrated significantly decreased transcriptional activity of C9orf72 with increasing number of normal repeat units, indicating that intermediate repeats might act as predisposing alleles and in favor of the loss-of-function disease mechanism. Further, we observed a significantly increased frequency of short indels in the GC-rich low complexity sequence adjacent to the G(4) C(2) repeat in C9orf72 expansion carriers (P < 0.001) with the most common indel creating one long contiguous imperfect G(4) C(2) repeat, which is likely more prone to replication slippage and pathological expansion.<ovid:br /><ovid:br />Copyright &#xa9; 2012 Wiley Periodicals, Inc.
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