Abstract
| Original language | English |
|---|---|
| Journal | PLoS ONE |
| Volume | 8 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - 2013 |
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In: PLoS ONE, Vol. 8, No. 7, 2013.
Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.
AU - Metzger, Silke
AU - Walter, Carolin
AU - Riess, Olaf
AU - Nguyen, Huu Phuc
A2 - Bachoud-Lévi, Anne-Catherine
A2 - Bentivoglio, Anna Rita
A2 - Biunno, Ida
A2 - Bonelli, Raphael M
A2 - Burgunder, Jean-Marc
A2 - Ferreira, Joaquim J
A2 - Heiberg, Arvid
A2 - Illmann, T
A2 - Landwehrmeyer, G Bernhard
A2 - Levey, John
A2 - Ramos-Arroyo, Maria A
A2 - Nielsen, Jørgen
A2 - Koivisto, Susana Pro
A2 - Päivärinta, Markku
A2 - Roos, Raymund A C
A2 - Sebastián, Ana Rojo
A2 - Tabrizi, Sarah
A2 - Vandenberghe, Wim
A2 - Verellen-Dumoulin, Christine
A2 - Zaremba, Jacek
A2 - Uhrová, Tereza
A2 - Wahlström, Jan
A2 - Barth, Katrin
A2 - Correia-Guedes, Leonor
A2 - Finisterra, Ana Maria
A2 - Garde, Monica Bascuñana
A2 - Bos, Reineke
A2 - Betz, Sabrina
A2 - Callaghan, Jenny
A2 - Fullam, Ruth
A2 - Ecker, Daniel
A2 - Nielsen, Mette Gilling
A2 - Hvalstedt, Carina
A2 - Held, Christine
A2 - Koppers, Kerstin
A2 - Laurà, Matilde
A2 - Horta, Saul Martinez
A2 - Descals, Asunción Martínez
A2 - Díaz, Madrid-Fundación Jiménez
A2 - Mestre, Tiago
A2 - Minster, Sara
A2 - Monza, Daniela
A2 - Mütze, Lisanne
A2 - Oehmen, Martin
A2 - Townhill, Jenny
A2 - Orth, Michael
A2 - Padieu, Helene
A2 - Paterski, Laurent
A2 - Peppa, Nadia
A2 - Roedig, Verena
A2 - Rialland, Amandine
A2 - Røren, Niini
A2 - Šašinková, Pavla
A2 - Seliverstov, Yury
A2 - Cubillo, Patricia Trigo
A2 - van Walsem, Marleen R
A2 - Wright, Abigail
A2 - Silva, Wildson Vieira da
A2 - Witjes-Anné, Marie-Noelle
A2 - Yudina, Elizaveta
A2 - Zielonka, Daniel
A2 - Zielonka, Eugeniusz
A2 - Zinzi, Paola
A2 - Herranhof, Brigitte
A2 - Holl, Anna
A2 - Kapfhammer, Hans-Peter
A2 - Koppitz, Michael
A2 - Magnet, Markus
A2 - Otti, Daniela
A2 - Painold, Annamaria
A2 - Reisinger, Karin
A2 - Scheibl, Monika
A2 - Hecht, Karen
A2 - Lilek, Sabine
A2 - Müller, Nicole
A2 - Schöggl, Helmut
A2 - Ullah, Jasmin
A2 - Ribaï, Pascale
A2 - Boogaerts, Andrea
A2 - van Reijen, Dimphna
A2 - Klempíř, Jiří
A2 - Majerová, Veronika
A2 - Roth, Jan
A2 - Hjermind, Lena
A2 - Jacobsen, Oda
A2 - Vinthev-Jensen, Tua
A2 - Larsen, Ida Unmack
A2 - Stockholm, Jette
A2 - Hiivola, Heli
A2 - Martikainen, Kirsti
A2 - Tuuha, Katri
A2 - Ignatius, Jaakko
A2 - Kärppä, Mikko
A2 - Åman, Jaana
A2 - Mustonen, Aki
A2 - Kajula, Outi
A2 - Santala, Maire
A2 - Allain, Philippe
A2 - Guérid, Marie-Anne
A2 - Gohier, Bénédicte
A2 - Olivier, Audrey
A2 - Prundean, Adriana
A2 - Scherer-Gagou, Clarisse
A2 - Verny, Christophe
A2 - Bost, Marie
A2 - Babiloni, Blandine
A2 - Debruxelles, Sabrina
A2 - Duché, Charlotte
A2 - Goizet, Cyril
A2 - Lafoucrière, Danielle
A2 - Jameau, Laetitia
A2 - Spampinato, Umberto
A2 - De Bruycker, Christelle
A2 - Cabaret, Maryline
A2 - Carette, Anne-Sophie
A2 - Defebvre, Luc
A2 - Decorte, Eric
A2 - Delval, Arnaud
A2 - Delliaux, Marie
A2 - Destee, Alain
A2 - Dujardin, Kathy
A2 - Peter, Mireille
A2 - Plomhouse, Lucie
A2 - Sablonnière, Bernard
A2 - Simonin, Clémence
A2 - Lemaire, Marie-Hélène
A2 - Manouvrier, Sylvie
A2 - Thibault-Tanchou, Stéphanie
A2 - Vuillaume, Isabelle
A2 - Krystkowiak, Pierre
A2 - Duru, Cécile
A2 - Roussel, Martine
A2 - Wannepain, Sandrine
A2 - Berrissoul, Hassan
A2 - Bellonet, Marcellin
A2 - Courtin, Françoise
A2 - Mantaux, Béatrice
A2 - Fasquel, Véronique
A2 - Godefroy, Olivier
A2 - Azulay, Jean-Philippe
A2 - Fluchère, Frédérique
A2 - Delfini, Marie
A2 - Eusebio, Alexandre
A2 - Mundler, Laura
A2 - Longato, Nadine
A2 - Rudolf, Gabrielle
A2 - Steinmetz, Gisèle
A2 - Tranchant, Christine
A2 - Wagner, Caroline
A2 - Zimmermann, Marie-Agathe
A2 - Marcel, Christophe
A2 - Andrich, Jürgen
A2 - Ellrichmann, Gisa
A2 - Hoffmann, Rainer
A2 - Kaminski, Barbara
A2 - Saft, Carsten
A2 - Stamm, Christiane
A2 - Boelmans, Kai
A2 - Ganos, Christos
A2 - Goerendt, Ines
A2 - Hidding, Ute
A2 - Lewerenz, Jan
A2 - Münchau, Alexander
A2 - Schmalfeld, Jenny
A2 - Stubbe, Lars
A2 - Zittel, Simone
A2 - Bürk, Kathrin
A2 - Möller, Jens Carsten
A2 - Rissling, Ida
A2 - Cormio, Claudia
A2 - Sciruicchio, Vittorio
A2 - Serpino, Claudia
A2 - de Tommaso, Marina
A2 - Capellari, Sabina
A2 - Cortelli, Pietro
A2 - Gallassi, Roberto
A2 - Poda, Roberto
A2 - Rizzo, Giovanni
A2 - Scaglione, Cesa
A2 - Abbruzzese, Giovanni
A2 - di Poggio, Monica Bandettini
A2 - Di Maria, Emilio
A2 - Ferrandes, Giovanna
A2 - Mandich, Paola
A2 - Marchese, Roberta
A2 - Albanese, Alberto
A2 - Di Bella, Daniela
A2 - Di Donato, Stefano
A2 - Gellera, Cinzia
A2 - Genitrini, Silvia
A2 - Mariotti, Caterina
A2 - Nanetti, Lorenzo
A2 - Paridi, Dominga
A2 - Soliveri, Paola
A2 - Tomasello, Chiara
A2 - Squitieri, Ferdinando
A2 - Elifani, Francesca
A2 - Maglione, Vittorio
A2 - Di Pardo, Alba
A2 - Alberti, Silvia
A2 - Griguoli, Annamaria
A2 - Amico, Enrico
A2 - Martino, Tiziana
A2 - Petrollini, Martina
A2 - Catalli, Claudio
A2 - Di Giacopo, Raffaella
A2 - Fasano, Alfonso
A2 - Frontali, Marina
A2 - Guidubaldi, Arianna
A2 - Ialongo, Tamara
A2 - Jacopini, Gioia
A2 - Loria, Giovanna
A2 - Piano, Carla
A2 - Chiara, Piccininni
A2 - Quaranta, Davide
A2 - Romano, Silvia
A2 - Soleti, Francesco
A2 - Spadaro, Maria
A2 - van Hout, Monique S E
A2 - van Vugt, Jeroen P P
A2 - de Weert, A Marit
A2 - Bolwijn, J J W
A2 - Dekker, M
A2 - Leenders, K L
A2 - Dumas, Eve M
A2 - van den Bogaard, Simon J A
A2 - 't Hart, Ellen P
A2 - van Duijn, Erik
A2 - Kremer, Berry
A2 - Verstappen, C C P
A2 - Blinkenberg, Ellen Økland
A2 - Hauge, Erik
A2 - Tyvoll, Hilde
A2 - Frich, Jan
A2 - Aaserud, Olaf
A2 - Wehus, Raghild
A2 - Bjørgo, Kathrine
A2 - Fannemel, Madeleine
A2 - Gørvell, Per
A2 - Lorentzen, Eirin
A2 - Retterstøl, Lars
A2 - Overland, Torborg
A2 - Stokke, Bodil
A2 - Bjørnevoll, Inga
A2 - Sando, Sigrid Botne
A2 - Dziadkiewicz, Artur
A2 - Nowak, Malgorzata
A2 - Robowski, Piotr
A2 - Sitek, Emilia
A2 - Slawek, Jaroslaw
A2 - Soltan, Witold
A2 - Szinwelski, Michal
A2 - Blaszcyk, Magdalena
A2 - Boczarska-Jedynak, Magdalena
A2 - Ciach-Wysocka, Ewelina
A2 - Gorzkowska, Agnieszka
A2 - Jasinska-Myga, Barbara
A2 - Opala, Gregorz
A2 - Kłodowska-Duda, Gabriela
A2 - Stompel, Daniel
A2 - Banaszkiewicz, Krzysztof
A2 - Boćwińska, Dorota
A2 - Szczudlik, Andrzej
A2 - Rudzinska, Monika
A2 - Wójcik, Magdalena
A2 - Dec, Małgorzata
A2 - Krawczyk, Malgorzata
A2 - Bojakowska-Jaremek, Kamila
A2 - Szczygieł, Elżbieta
A2 - Stenwak, Agata
A2 - Wasielewska, Anna
A2 - Bryl, Anna
A2 - Ciesielska, Anna
A2 - Klimberg, Aneta
A2 - Marcinkowski, Jerzy
A2 - Sempołowicz, Justyna
A2 - Samara, Husam
A2 - Wiśniewski, Bartłomiej
A2 - Janik, Piotr
A2 - Gogol, Anna
A2 - Kwiecinski, Hubert
A2 - Jamrozik, Zygmunt
A2 - Kaminska, Anna
A2 - Antczak, Jakub
A2 - Jachinska, Katarzyna
A2 - Rakowicz, Maryla
A2 - Richter, Przemyslaw
A2 - Rola, Rafal
A2 - Ryglewicz, Danuta
A2 - Sienkiewicz-Jarosz, Halina
A2 - Stępniak, Iwona
A2 - Witkowski, Grzegorz
A2 - Zdzienicka, Elzbieta
A2 - Sułek, Anna
A2 - Krysa, Wioletta
A2 - Stepniak, Iwona
A2 - Zieora-Jakutowicz, Karolina
A2 - Júlio, Filipa
A2 - Januário, Cristina
A2 - Coelho, Miguel
A2 - Mendes, Tiago
A2 - Valadas, Anabela
A2 - Andrade, Carlos
A2 - Gago, Miguel
A2 - Garrett, Carolina
A2 - Guerra, Maria Rosália
A2 - Lima, Joana
A2 - Massano, João
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A2 - Pin Quiroga, Purificacion
A2 - Vázquez Rivera, Susana
A2 - Villanueva, Clara
A2 - Alegre, Javier
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A2 - Moreno, José Luis López-Sendón
A2 - Ruíz, Pedro J García
A2 - Martínez-Descals, Asunción
A2 - Artiga, María José Saiz
A2 - Sánchez, Vicenta
A2 - Guerrero, Rosa
A2 - Bárcenas, Antonio Herranz
A2 - Perea, María Fuensanta Noguera
A2 - Fortuna, Lorenza
A2 - Torres, María Martirio Antequera
A2 - Reinante, Gema
A2 - Moreau, Laura Vivancos
A2 - Barbera, Miquel Aguilar
A2 - Guia, Dolors Badenes
A2 - Hernanz, Laura Casas
A2 - Catena, Judit López
A2 - Ferrer, Pilar Quiléz
A2 - Carruesco, Gemma Tome
A2 - Bas, Jordi
A2 - Busquets, Núria
A2 - Calopa, Matilde
A2 - Elorza, Marina Dalmau
A2 - López, Cristóbal Díez-Aja
A2 - Durán-Sindreu Terol, Santiago
A2 - Robert, Misericordia Floriach
A2 - Ruíz, Belén Garzón
A2 - Casado, Ana González
A2 - Martínez, Isabel Haro
A2 - Viladrich, Celia Mareca
A2 - Cárdenas, Regina Ponsi
A2 - Roca, Elvira
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A2 - Idiago, Jesús Miguel Ruiz
A2 - Vergara, Mar Ruíz
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A2 - Martinez-Jaurrieta, Maria Dolores
A2 - Moreno, Jose Manuel Garcia
A2 - Peña, José Chacón
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A2 - Bastida, Antonio Martín
A2 - Recio, Maria Fernández
A2 - Vergé, Luis Redondo
A2 - Sánchez, Violeta Sánchez
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A2 - Cáceres, María Teresa
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A2 - Owen, Michael
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A2 - Hobson, Emma
A2 - Clayton, Carole
A2 - Dipple, Heather
A2 - Middleton, Julia
A2 - Freire-Patino, Dawn
A2 - Andrews, Thomasin
A2 - Dougherty, Andrew
A2 - Kavalier, Fred
A2 - Golding, Charlotte
A2 - Laing, Hana
A2 - Lashwood, Alison
A2 - Robertson, Dene
A2 - Ruddy, Deborah
A2 - Whaite, Anna
A2 - Santhouse, Alastair
A2 - Patton, Michael
A2 - Peterson, Maria
A2 - Rose, Sarah
A2 - Bruno, Stefania
A2 - Chu, Elvina
A2 - Doherty, Karen
A2 - Haider, Salman
A2 - Hensman, Davina
A2 - Lahiri, Nayana
A2 - Lewis, Monica
A2 - Novak, Marianne
A2 - Patel, Aakta
A2 - Robertson, Nicola
A2 - Rosser, Elisabeth
A2 - Taylor, Rachel
A2 - Warner, Thomas
A2 - Wild, Edward
A2 - Craufurd, David
A2 - Howard, Liz
A2 - Sollom, Andrea
A2 - Snowden, Julie
A2 - Thompson, Jennifer
A2 - Jones, Mary
A2 - Murphy, Helen
A2 - Trender-Gerhard, Iris
A2 - Rogers, Dawn
A2 - Bek, Judith
A2 - Oughton, Emma
A2 - Johnson, Liz
A2 - Hare, Marianne
A2 - Arran, Natalie
A2 - Verstraelen, Nichola
A2 - Partington-Jones, Lucy
A2 - Huson, Susan
A2 - Stopford, Cheryl
A2 - Westmoreland, Leann
A2 - Davidson, Jill
A2 - Morgan, Karen
A2 - Savage, Lois
A2 - Singh, Baldev
A2 - Komati, Suresh
A2 - Nemeth, Andrea H
A2 - Armstrong, Richard
A2 - Valentine, Ruth
A2 - Siuda, Gill
A2 - Harrison, David
A2 - Hughes, Max
A2 - Parkinson, Andrew
A2 - Soltysiak, Beverley
A2 - Bandmann, Oliver
A2 - Bradbury, Alyson
A2 - Gill, Paul
A2 - Fairtlough, Helen
A2 - Fillingham, Kay
A2 - Foustanos, Isabella
A2 - Kazoka, Mbombe
A2 - O' Donovan, Kirsty
A2 - Taylor, Catherine
A2 - Tidswell, Katherine
A2 - Quarrell, Oliver
N1 - G1001257, Medical Research Council, United Kingdom
PY - 2013
Y1 - 2013
N2 - The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis.
AB - The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis.
U2 - 10.1371/journal.pone.0068951
DO - 10.1371/journal.pone.0068951
M3 - Article
C2 - 23894380
VL - 8
JO - PLoS ONE
JF - PLoS ONE
IS - 7
ER -