NMDA receptor gene variations as modifiers in Huntington disease: a replication study.

Saft, C; Epplen, Jt; Wieczorek, S; Landwehrmeyer, Gb; Roos, Ra; de Yebenes JG,; Dose, M; Tabrizi, Sj; Craufurd, D; Russo, CINZIA VALERIA; CollaboratorsBarth K, Arning L.; Bascuñana Garde, M; Bos, R; Ecker, D; Handley, O; Heinonen, N; Held, C; Laurà, M; Martínez Descals, A; Mestre, T; Monza, D; Naji, J; Orth, M; Padieu, H; Pro Koivisto, S; Rialland, A; Sasinková, P; Trigo Cubillo, P; van Walsem, M; Witjes Ané MN,; Zielonka, D; Bonelli, R; Herranhof, B; Hödl, A; Kapfhammer, Hp; Koppitz, M; Magnet, M; Otti, D; Painold, A; Reisinge, K; Brugger, F; Hepperger, C; Hotter, A; Mahlknecht, P; Nocker, M; Seppi, K; Wenning, G; Ribaï, P; Verellen Dumoulin, C; Klempí??, J; Kucharik, M; Roth, J; Hasholt, L; Hjermind, L; Jakobsen, O; Nielsen, J; Nørremølle, A; Sørensen, S; Stokholm, J; Hiivola, H; Martikainen, K; Tuuha, K; Kosinski, C; Probst, D; Sass, C; Schiefer, J; Schlangen, C; Werner, C; Lange, H; Löhle, M; Storch, A; Wolz, A; Wolz, M; Lambeck, J; Zucker, B; Münchau, A; Stubbe, L; Zittel, S; Heinicke, W; Longinus, B; Peinemann, A; Städtler, M; Weindl, A; Bohlen, S; Lange, H; Reilmann, R; Beister, A; Dose, M; Hammer, K; Leythaeuser, G; Marquard, R; Raab, T; Schrenk, C; Schuierer, M; Wiedemann, A; Beister, A; Dose, M; Hammer, K; Leythaeuser, G; Marquard, R; Raab, T; Schrenk, C; Schuierer, M; Wiedemann, A; Ecker, D; Eschenbach, C; Landwehrmeyer, B; Lezius, F; Orth, M; Trautmann, S; Cormio, C; Difruscolo, O; de Tommaso, M; Sciruicchio, V; Serpino, C; Bertini, E; Mechi, C; Paganini, M; Piacentini, S; Romoli, M; Sorbi, S; Abbruzzese, G; Di Maria, E; Bandettini di Poggio Giovanna Ferrandes, M; Mandich, P; Marchese, R; Albanese, A; Di Donato, S; Mariotti, C; Soliveri, P; Gellera, C; Monza, D; Tomasello, C; Nanetti, L; Luigi, D; DE MICHELE, Giuseppe; Rinaldi, Carlo; Russo, Cinzia; Salvatore, Elena; Tucci, Tecla; Squitieri, F; Martino, T; Orobello, S; Alberti, S; De Gregorio, F; Codella, V; De Nicola, N; Maglione, V; Bentivoglio, A; Fasano, A; Frontali, M; Guidubaldi, A; Ialongo, T; Jacopini, G; Loria, G; Piano, C; Romano, S; Soleti, F; Spadaro, M; Zinzi, P; Heiberg, A; van Walsem, M; Bjørgo, K; Fannemel, M; Gørvell, P; Retterstøl, L; Bjørnevoll, I; Botne Sando, S; Slawek, J; Soltan, W; Sitek, E; Boczarska Jedynak, M; Jasinska Myga, B; Opala, G; Szczudlik, A; Rudzi??ska, M; Wójcik, M; Banaszkiewicz, K; Krawczyk, M; Zielonka, D; Marcinkowski, J; Ciesielska, A; Sempo??owicz, J; Bryl, A; Klimberg, A; Janik, P; Kalbarczyk, A; Kwiecinski, H; Jamrozik, Z; Witkowski, G; Ryglewicz, D; Antczak, J; Rakowicz, M; Jachinska, K; Zdzienicka, E; Richter, P; Zaremba, J; Coelho, M; Ferreira, J; Mestre, T; Rosa, M; Valadas, A; Gago, M; Garrett, C; Guerra, M; Barrero, F; Morales, B; López Sendón Moreno, J; Cubo, E; Mariscal, N; Sánchez, J; García, R; Villanueva, C; Pin Quiroga, P; Bascuñana, M; Trigo Cubillo, P; Fatàas, M; Luis López Moreno, J; García Ribas, G; Schwarz, C; de Yébenes JG,; José Saiz Artiga, M; Martínez Descals, A; García Ruíz, P; Sánchez, V; Fortuna Alcaraz, L; Fuensanta Noguera Perea, M; Martirio Antequera Torres, M; Vivancos Moreau, L; Rojo Sebastian, A; Aguilar Barbera, M; Badenes Guia, D; Casas Hernanz, L; Tome Carruesco, G; Suarez San Martin, E; López Catena, J; Bas, J; Calopa, M; Busquets, N; Navas Arques, P; Gorospe, A; Legarda, I; José Torres Rodríguez, M; Vives, B; Carrillo, F; Mir, P; José Lama Suarez, M; Loutfi, G; Stattin, El; Westman, L; Wikström, B; Pålhagen, S; Björnsson, E; Burgunder, Jm; Romero, I; Schüpbach, M; Weber Zaugg, S; van Hout, M; van Vugt, J; Marit de Weert, A; Bolwijn, Jj; Dekker, M; Leenders, Kl; van Oostrom JC,; Bos, R; Dumas, E; Jurgens, C; van den Bogaard SA,; Roos, R; Witjes Ané MN,; Kremer, B; Verstappen, Cc; de Souza, J; Rickards, H; Wright, J; Barker, R; Fisher, K; Goyder Goodman, A; Hill, S; Kershaw, A; Mason, S; Paterson, N; Raymond, L; Bisson, J; Busse, M; Ellison Rose, L; Handley, O; Hunt, S; Naji, J; Price, K; Rosser, A; Dunnett, S; Edwards, M; De Sousa, P; Hughes, T; Mcgill, M; Pearson, P; Porteous, M; Smith, P; Zeman, A; Lambord, N; Rankin, J; Burrows, L; Fletcher, A; Laver, F; Silva, M; Thomson, A; Andrews, T; Dougherty, A; Kavalier, F; Golding, C; Lashwood, A; Robertson, D; Ruddy, D; Whaite, A; Patton, M; Patterson, M; Bourne, C; Clayton, C; Dipple, H; Clapton, J; Grant, J; Gross, D; Hallam, C; Middleton, J; Murch, A; Patino, D; Andrews, T; Bruno, S; Chu, E; Doherty, K; Lahiri, N; Novak, M; Patel, A; Tabrizi, S; Taylor, R; Warner, T; Wild, E; Arran, N; Craufurd, D; Fullam, R; Howard, L; Huson, S; Partington Jones, L; Verstraelen, N; Snowden, J; Sollom, A; Stopford, C; Thompson, J; Westmoreland, L; Nemeth, A; Siuda, G; Bandmann, O; Bradbury, A; Fillingham, K; Foustanos, I; Tidswell, K; Quarrell, O.

doi:10.1371/currents.RRN1247

Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD.

NMDA receptor gene variations as modifiers in Huntington disease: a replication study / Saft, C; Epplen, Jt; Wieczorek, S; Landwehrmeyer, Gb; Roos, Ra; de Yebenes, Jg; Dose, M; Tabrizi, Sj; Craufurd, D; Russo, CINZIA VALERIA; Arning L., CollaboratorsBarth K; Bascuñana Garde, M; Bos, R; Ecker, D; Handley, O; Heinonen, N; Held, C; Laurà, M; Martínez Descals, A; Mestre, T; Monza, D; Naji, J; Orth, M; Padieu, H; Pro Koivisto, S; Rialland, A; Sasinková, P; Trigo Cubillo, P; van Walsem, M; Witjes Ané, Mn; Zielonka, D; Bonelli, R; Herranhof, B; Hödl, A; Kapfhammer, Hp; Koppitz, M; Magnet, M; Otti, D; Painold, A; Reisinge, K; Brugger, F; Hepperger, C; Hotter, A; Mahlknecht, P; Nocker, M; Seppi, K; Wenning, G; Ribaï, P; Verellen Dumoulin, C; Klempí??, J; Kucharik, M; Roth, J; Hasholt, L; Hjermind, L; Jakobsen, O; Nielsen, J; Nørremølle, A; Sørensen, S; Stokholm, J; Hiivola, H; Martikainen, K; Tuuha, K; Kosinski, C; Probst, D; Sass, C; Schiefer, J; Schlangen, C; Werner, C; Lange, H; Löhle, M; Storch, A; Wolz, A; Wolz, M; Lambeck, J; Zucker, B; Münchau, A; Stubbe, L; Zittel, S; Heinicke, W; Longinus, B; Peinemann, A; Städtler, M; Weindl, A; Bohlen, S; Lange, H; Reilmann, R; Beister, A; Dose, M; Hammer, K; Leythaeuser, G; Marquard, R; Raab, T; Schrenk, C; Schuierer, M; Wiedemann, A; Beister, A; Dose, M; Hammer, K; Leythaeuser, G; Marquard, R; Raab, T; Schrenk, C; Schuierer, M; Wiedemann, A; Ecker, D; Eschenbach, C; Landwehrmeyer, B; Lezius, F; Orth, M; Trautmann, S; Cormio, C; Difruscolo, O; de Tommaso, M; Sciruicchio, V; Serpino, C; Bertini, E; Mechi, C; Paganini, M; Piacentini, S; Romoli, M; Sorbi, S; Abbruzzese, G; Di Maria, E; Bandettini di Poggio Giovanna Ferrandes, M; Mandich, P; Marchese, R; Albanese, A; Di Donato, S; Mariotti, C; Soliveri, P; Gellera, C; Monza, D; Tomasello, C; Nanetti, L; Luigi, D; DE MICHELE, Giuseppe; Rinaldi, Carlo; Russo, Cinzia; Salvatore, Elena; Tucci, Tecla; Squitieri, F; Martino, T; Orobello, S; Alberti, S; De Gregorio, F; Codella, V; De Nicola, N; Maglione, V; Bentivoglio, A; Fasano, A; Frontali, M; Guidubaldi, A; Ialongo, T; Jacopini, G; Loria, G; Piano, C; Romano, S; Soleti, F; Spadaro, M; Zinzi, P; Heiberg, A; van Walsem, M; Bjørgo, K; Fannemel, M; Gørvell, P; Retterstøl, L; Bjørnevoll, I; Botne Sando, S; Slawek, J; Soltan, W; Sitek, E; Boczarska Jedynak, M; Jasinska Myga, B; Opala, G; Szczudlik, A; Rudzi??ska, M; Wójcik, M; Banaszkiewicz, K; Krawczyk, M; Zielonka, D; Marcinkowski, J; Ciesielska, A; Sempo??owicz, J; Bryl, A; Klimberg, A; Janik, P; Kalbarczyk, A; Kwiecinski, H; Jamrozik, Z; Witkowski, G; Ryglewicz, D; Antczak, J; Rakowicz, M; Jachinska, K; Zdzienicka, E; Richter, P; Zaremba, J; Coelho, M; Ferreira, J; Mestre, T; Rosa, M; Valadas, A; Gago, M; Garrett, C; Guerra, M; Barrero, F; Morales, B; López Sendón Moreno, J; Cubo, E; Mariscal, N; Sánchez, J; García, R; Villanueva, C; Pin Quiroga, P; Bascuñana, M; Trigo Cubillo, P; Fatàas, M; Luis López Moreno, J; García Ribas, G; Schwarz, C; de Yébenes, Jg; José Saiz Artiga, M; Martínez Descals, A; García Ruíz, P; Sánchez, V; Fortuna Alcaraz, L; Fuensanta Noguera Perea, M; Martirio Antequera Torres, M; Vivancos Moreau, L; Rojo Sebastian, A; Aguilar Barbera, M; Badenes Guia, D; Casas Hernanz, L; Tome Carruesco, G; Suarez San Martin, E; López Catena, J; Bas, J; Calopa, M; Busquets, N; Navas Arques, P; Gorospe, A; Legarda, I; José Torres Rodríguez, M; Vives, B; Carrillo, F; Mir, P; José Lama Suarez, M; Loutfi, G; Stattin, El; Westman, L; Wikström, B; Pålhagen, S; Björnsson, E; Burgunder, Jm; Romero, I; Schüpbach, M; Weber Zaugg, S; van Hout, M; van Vugt, J; Marit de Weert, A; Bolwijn, Jj; Dekker, M; Leenders, Kl; van Oostrom, Jc; Bos, R; Dumas, E; Jurgens, C; van den Bogaard, Sa; Roos, R; Witjes Ané, Mn; Kremer, B; Verstappen, Cc; de Souza, J; Rickards, H; Wright, J; Barker, R; Fisher, K; Goyder Goodman, A; Hill, S; Kershaw, A; Mason, S; Paterson, N; Raymond, L; Bisson, J; Busse, M; Ellison Rose, L; Handley, O; Hunt, S; Naji, J; Price, K; Rosser, A; Dunnett, S; Edwards, M; De Sousa, P; Hughes, T; Mcgill, M; Pearson, P; Porteous, M; Smith, P; Zeman, A; Lambord, N; Rankin, J; Burrows, L; Fletcher, A; Laver, F; Silva, M; Thomson, A; Andrews, T; Dougherty, A; Kavalier, F; Golding, C; Lashwood, A; Robertson, D; Ruddy, D; Whaite, A; Patton, M; Patterson, M; Bourne, C; Clayton, C; Dipple, H; Clapton, J; Grant, J; Gross, D; Hallam, C; Middleton, J; Murch, A; Patino, D; Andrews, T; Bruno, S; Chu, E; Doherty, K; Lahiri, N; Novak, M; Patel, A; Tabrizi, S; Taylor, R; Warner, T; Wild, E; Arran, N; Craufurd, D; Fullam, R; Howard, L; Huson, S; Partington Jones, L; Verstraelen, N; Snowden, J; Sollom, A; Stopford, C; Thompson, J; Westmoreland, L; Nemeth, A; Siuda, G; Bandmann, O; Bradbury, A; Fillingham, K; Foustanos, I; Tidswell, K; Quarrell, O.. - 3:(2011). [10.1371/currents.RRN1247]