A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
- Fogh, I.
- Ratti, A.
- Gellera, C.
- Lin, K.
- Tiloca, C.
- Moskvina, V.
- Corrado, L.
- Soraru, G.
- Cereda, C.
- Corti, S.
- Gentilini, D.
- Calini, D.
- Castellotti, B.
- Mazzini, L.
- Querin, G.
- Gagliardi, S.
- Del Bo, R.
- Conforti, F.L.
- Siciliano, G.
- Inghilleri, M.
- Sacca, F.
- Bongioanni, P.
- Penco, S.
- Corbo, M.
- Sorbi, S.
- Filosto, M.
- Ferlini, A.
- Di Blasio, A.M.
- Signorini, S.
- Shatunov, A.
- Jones, A.
- Shaw, P.J.
- Morrison, K.E.
- Farmer, A.E.
- Van Damme, P.
- Robberecht, W.
- Chio, A.
- Traynor, B.J.
- Sendtner, M.
- Melki, J.
- Meininger, V.
- Hardiman, O.
- Andersen, P. M.
- Leigh, N. P.
- Glass, J. D.
- Overste, D.
- Diekstra, F. P.
- Veldink, J. H.
- van Es, M. A.
- Shaw, C. E.
- Weale, M. E.
- Lewis, C. M.
- Williams, J.
- Brown, R. H.
- Landers, J. E.
- Ticozzi, N.
- Ceroni, M.
- Pegoraro, E.
- Comi, G. P.
- D'Alfonso, S.
- van den Berg, L. H.
- Taroni, F.
- Al-Chalabi, A.
- Powell, J.
- Silani, V.
- Brescia Morra, V.
- Filla, A.
- Massimo, F.
- Marsili, A.
- Viviana, P.
- Puorro, G.
- La Bella, V.
- Logroscino, G.
- Monsurro, M. R.
- Quattrone, A.
- Simone, I. L.
- Ahmeti, K. B.
- Ajroud-Driss, S.
- Armstrong, J.
- Birve, A.
- Blauw, H. M.
- Bruijn, L.
- Chen, W.
- Comeau, M. C.
- Cronin, S.
- Soraya, G. A.
- Grab, J. D.
- Groen, E. J.
- Haines, J. L.
- Heller, S.
- Huang, J.
- Hung, W.-Y.
- Khan, H.
- Jaworski, J. M.
- Langefeld, C. D.
- Marion, M. C.
- McLaughlin, R. L.
- Miller, J. W.
- Mora, G.
- Pericak-Vance, M. A.
- Rampersaud, E.
- Siddique, N.
- Siddique, T.
- Smith, B. N.
- Sufit, R.
- Topp, S.
- Vance, C.
- van Vught, P.
- Yang, Y.
- Zheng, J. G.
DOIAbstract
Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease. However, genome-wide association studies (GWAS) of the more common (?90%) sporadic form have been less successful with the exception of the replicated locus at 9p21.2. To identify new loci associated with disease susceptibility, we have established the largest association study in ALS to date and undertaken a GWAS meta-analytical study combining 3959 newly genotyped Italian individuals (1982 cases and 1977 controls) collected by SLAGEN (Italian Consortium for the Genetics of ALS) together with samples from Netherlands, USA, UK, Sweden, Belgium, France...
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