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3 results on '"Scholz SW"'

1. A Genome-wide Association Study of Myasthenia Gravis

Author

Renton, Ae, Pliner, Ha, Provenzano, Carlo, Evoli, Amelia, Ricciardi, R, Nalls, Ma, Marangi, Giuseppe, Abramzon, Y, Arepalli, S, Chong, S, Hernandez, Dg, Johnson, Jo, Bartoccioni, Emanuela, Scuderi, Flavia, Maestri, M, Gibbs, Jr, Errichiello, E, Chiò, A, Restagno, G, Sabatelli, Mario, Macek, M, Scholz, Sw, Corse, A, Chaudhry, V, Benatar, M, Barohn, Rj, Mcvey, A, Pasnoor, M, Dimachkie, Mm, Rowin, J, Kissel, J, Freimer, M, Kaminski, Hj, Sanders, Db, Lipscomb, B, Massey, Jm, Chopra, M, Howard, Jf, Koopman, Wj, Nicolle, Mw, Pascuzzi, Rm, Pestronk, A, Wulf, C, Florence, J, Blackmore, D, Soloway, A, Siddiqi, Z, Muppidi, S, Wolfe, G, Richman, D, Mezei, Mm, Jiwa, T, Oger, J, Drachman, Db, Traynor, Bj, Provenzano, Carlo (ORCID:0000-0001-5476-5517), Evoli, Amelia (ORCID:0000-0003-0282-8787), Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Bartoccioni, Emanuela (ORCID:0000-0002-4434-8661), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Renton, Ae, Pliner, Ha, Provenzano, Carlo, Evoli, Amelia, Ricciardi, R, Nalls, Ma, Marangi, Giuseppe, Abramzon, Y, Arepalli, S, Chong, S, Hernandez, Dg, Johnson, Jo, Bartoccioni, Emanuela, Scuderi, Flavia, Maestri, M, Gibbs, Jr, Errichiello, E, Chiò, A, Restagno, G, Sabatelli, Mario, Macek, M, Scholz, Sw, Corse, A, Chaudhry, V, Benatar, M, Barohn, Rj, Mcvey, A, Pasnoor, M, Dimachkie, Mm, Rowin, J, Kissel, J, Freimer, M, Kaminski, Hj, Sanders, Db, Lipscomb, B, Massey, Jm, Chopra, M, Howard, Jf, Koopman, Wj, Nicolle, Mw, Pascuzzi, Rm, Pestronk, A, Wulf, C, Florence, J, Blackmore, D, Soloway, A, Siddiqi, Z, Muppidi, S, Wolfe, G, Richman, D, Mezei, Mm, Jiwa, T, Oger, J, Drachman, Db, Traynor, Bj, Provenzano, Carlo (ORCID:0000-0001-5476-5517), Evoli, Amelia (ORCID:0000-0003-0282-8787), Marangi, Giuseppe (ORCID:0000-0002-6898-8882), Bartoccioni, Emanuela (ORCID:0000-0002-4434-8661), and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

Myasthenia gravis is a chronic, autoimmune, neuromuscular disease characterized by fluctuating weakness of voluntary muscle groups. Although genetic factors are known to play a role in this neuroimmunological condition, the genetic etiology underlying myasthenia gravis is not well understood.

Published
2015

2. Exome sequencing reveals VCP mutations as a cause of familial ALS

Author

Johnson, Jo, Mandrioli, J, Benatar, M, Abramzon, Y, Van Deerlin, Vm, Trojanowski, Jq, Gibbs, Jr, Brunetti, M, Gronka, S, Wuu, J, Ding, J, Mccluskey, L, Martinez Lage, M, Falcone, D, Hernandez, Dg, Arepalli, S, Chong, S, Schymick, Jc, Rothstein, J, Landi, Francesco Luigi, Wang, Y, Calvo, A, Mora, G, Sabatelli, Mario, Monsurrò, Mr, Battistini, S, Salvi, F, Spataro, R, Sola, P, Borghero, G, Galassi, G, Scholz, Sw, Taylor, Jp, Restagno, G, Chiò, A, Traynor, Bj, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Johnson, Jo, Mandrioli, J, Benatar, M, Abramzon, Y, Van Deerlin, Vm, Trojanowski, Jq, Gibbs, Jr, Brunetti, M, Gronka, S, Wuu, J, Ding, J, Mccluskey, L, Martinez Lage, M, Falcone, D, Hernandez, Dg, Arepalli, S, Chong, S, Schymick, Jc, Rothstein, J, Landi, Francesco Luigi, Wang, Y, Calvo, A, Mora, G, Sabatelli, Mario, Monsurrò, Mr, Battistini, S, Salvi, F, Spataro, R, Sola, P, Borghero, G, Galassi, G, Scholz, Sw, Taylor, Jp, Restagno, G, Chiò, A, Traynor, Bj, and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS). Mutations in VCP have previously been identified in families with Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). Screening of VCP in a cohort of 210 familial ALS cases and 78 autopsy-proven ALS cases identified four additional mutations including a p.R155H mutation in a pathologically proven case of ALS. VCP protein is essential for maturation of ubiquitin-containing autophagosomes, and mutant VCP toxicity is partially mediated through its effect on TDP-43 protein, a major constituent of ubiquitin inclusions that neuropathologically characterize ALS. Our data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ∼1%-2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neuron degeneration.

Published
2010

3. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

Author

Chiò, A, Schymick, Jc, Restagno, G, Scholz, Sw, Lombardo, F, Lai, S, Mora, G, Fung, H, Britton, A, Arepalli, S, Gibbs, Jr, Nalls, M, Berger, S, Kwee, Lc, Oddone, Ez, Ding, J, Crews, C, Rafferty, I, Washecka, N, Hernandez, D, Ferrucci, L, Bandinelli, S, Guralnik, J, Macciardi, F, Torri, F, Lupoli, S, Chanock, Sj, Thomas, G, Hunter, Dj, Gieger, C, Wichmann, He, Calvo, A, Mutani, R, Battistini, S, Giannini, F, Caponnetto, C, Mancardi, Gl, La Bella, V, Valentino, F, Monsurrò, Mr, Tedeschi, G, Marinou, K, Sabatelli, Mario, Conte, Amelia, Mandrioli, J, Sola, P, Salvi, F, Bartolomei, I, Siciliano, G, Carlesi, C, Orrell, Rw, Talbot, K, Simmons, Z, Connor, J, Pioro, Ep, Dunkley, T, Stephan, Da, Kasperaviciute, D, Fisher, Em, Jabonka, S, Sendtner, M, Beck, M, Bruijn, L, Rothstein, J, Schmidt, S, Singleton, A, Hardy, J, Traynor, Bj, Sabatelli, Mario (ORCID:0000-0001-6635-4985), Chiò, A, Schymick, Jc, Restagno, G, Scholz, Sw, Lombardo, F, Lai, S, Mora, G, Fung, H, Britton, A, Arepalli, S, Gibbs, Jr, Nalls, M, Berger, S, Kwee, Lc, Oddone, Ez, Ding, J, Crews, C, Rafferty, I, Washecka, N, Hernandez, D, Ferrucci, L, Bandinelli, S, Guralnik, J, Macciardi, F, Torri, F, Lupoli, S, Chanock, Sj, Thomas, G, Hunter, Dj, Gieger, C, Wichmann, He, Calvo, A, Mutani, R, Battistini, S, Giannini, F, Caponnetto, C, Mancardi, Gl, La Bella, V, Valentino, F, Monsurrò, Mr, Tedeschi, G, Marinou, K, Sabatelli, Mario, Conte, Amelia, Mandrioli, J, Sola, P, Salvi, F, Bartolomei, I, Siciliano, G, Carlesi, C, Orrell, Rw, Talbot, K, Simmons, Z, Connor, J, Pioro, Ep, Dunkley, T, Stephan, Da, Kasperaviciute, D, Fisher, Em, Jabonka, S, Sendtner, M, Beck, M, Bruijn, L, Rothstein, J, Schmidt, S, Singleton, A, Hardy, J, Traynor, Bj, and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 controls by testing the 7600 most associated SNPs from the first stage in three independent cohorts consisting of 2160 cases and 3008 controls. None of the SNPs selected for replication exceeded the Bonferroni threshold for significance. The two most significantly associated SNPs, rs2708909 and rs2708851 [odds ratio (OR) = 1.17 and 1.18, and P-values = 6.98 x 10(-7) and 1.16 x 10(-6)], were located on chromosome 7p13.3 within a 175 kb linkage disequilibrium block containing the SUNC1, HUS1 and C7orf57 genes. These associations did not achieve genome-wide significance in the original cohort and failed to replicate in an additional independent cohort of 989 US cases and 327 controls (OR = 1.18 and 1.19, P-values = 0.08 and 0.06, respectively). Thus, we chose to cautiously interpret our data as hypothesis-generating requiring additional confirmation, especially as all previously reported loci for ALS have failed to replicate successfully. Indeed, the three loci (FGGY, ITPR2 and DPP6) identified in previous GWAS of sporadic ALS were not significantly associated with disease in our study. Our findings suggest that ALS is more genetically and clinically heterogeneous than previously recognized. Genotype data from our study have been made available online to facilitate such future endeavors.

Published
2009

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