Journal ArticleDOI
No association of DPP6 with amyotrophic lateral sclerosis in an Italian population.
Isabella Fogh,Sandra D'Alfonso,Cinzia Gellera,Antonia Ratti,Cristina Cereda,Silvana Penco,Lucia Corrado,Gianni Sorarù,Barbara Castellotti,Cinzia Tiloca,Stella Gagliardi,Lorena Cozzi,Michelle K. Lupton,Nicola Ticozzi,Letizia Mazzini,Christopher Shaw,Ammar Al-Chalabi,John Powell,Vincenzo Silani +18 more
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TLDR
This work has attempted to replicate a recently reported association of polymorphism rs10260404, in the Dipeptidyl-peptidase 6 gene (DPP6), with susceptibility to amyotrophic lateral sclerosis (ALS) in a large independent Italian cohort.About:
This article is published in Neurobiology of Aging.The article was published on 2011-05-01. It has received 34 citations till now. The article focuses on the topics: Amyotrophic lateral sclerosis & Minor allele frequency.read more
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Journal ArticleDOI
State of play in amyotrophic lateral sclerosis genetics.
TL;DR: Current literature of the major genes underlying ALS, SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, C9ORF72 and PFN1 are summarized and how each new genetic discovery is broadening the phenotype associated with the clinical entity the authors know as ALS is outlined.
Journal ArticleDOI
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
Aleksey Shatunov,Kin Y. Mok,Stephen Newhouse,Michael E. Weale,Bradley N. Smith,Caroline Vance,Lauren Johnson,Jan H. Veldink,Michael A van Es,Leonard H. van den Berg,Wim Robberecht,Philip Van Damme,Orla Hardiman,Anne Farmer,Cathryn M. Lewis,Cathryn M. Lewis,Amy W. Butler,Olubunmi Abel,Peter M. Andersen,Isabella Fogh,Vincenzo Silani,Adriano Chiò,Bryan J. Traynor,Judith Melki,Vincent Meininger,John Landers,Peter McGuffin,Jonathan D. Glass,Hardev Pall,P. Nigel Leigh,John Hardy,Robert H. Brown,John Powell,Richard W. Orrell,Karen E. Morrison,Pamela J. Shaw,Christopher Shaw,Ammar Al-Chalabi +37 more
TL;DR: In this paper, the authors found strong evidence of a genetic association of two single nucleotide polymorphisms in a locus on chromosome 9p21.2 with sporadic ALS, in line with previous independent GWAS of ALS and linkage studies of ALS-frontotemporal dementia.
Journal ArticleDOI
Dissection of genetic factors associated with amyotrophic lateral sclerosis.
TL;DR: Past and current methods used for the identification of FALS and SALS associated genes are reviewed and a risk-based classification for these are proposed and the three most recently discovered 'high risk' genes in ALS are summarized.
Journal ArticleDOI
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
Isabella Fogh,Antonia Ratti,Cinzia Gellera,Kuang Lin,Cinzia Tiloca,Valentina Moskvina,Lucia Corrado,Gianni Sorarù,Cristina Cereda,Stefania Corti,Davide Gentilini,Daniela Calini,Barbara Castellotti,Letizia Mazzini,Giorgia Querin,Stella Gagliardi,Roberto Del Bo,Francesca Luisa Conforti,Gabriele Siciliano,Maurizio Inghilleri,Francesco Saccà,Paolo Bongioanni,Silvana Penco,Massimo Corbo,Sandro Sorbi,Massimiliano Filosto,Alessandra Ferlini,Anna Maria Di Blasio,Stefano Signorini,Aleksey Shatunov,Ashley R. Jones,Pamela J. Shaw,Karen E. Morrison,Karen E. Morrison,Anne Farmer,Philip Van Damme,Wim Robberecht,Adriano Chiò,Bryan J. Traynor,Michael Sendtner,Judith Melki,Vincent Meininger,Orla Hardiman,Peter M. Andersen,Nigel Leigh,Jonathan D. Glass,Daniel J. Overste,Frank P. Diekstra,Jan H. Veldink,Michael A van Es,Christopher Shaw,Michael E. Weale,Cathryn M. Lewis,Julie Williams,Robert H. Brown,John Landers,Nicola Ticozzi,Mauro Ceroni,Elena Pegoraro,Giacomo P. Comi,Sandra D'Alfonso,Leonard H. van den Berg,Franco Taroni,Ammar Al-Chalabi,John Powell,Vincenzo Silani,Vincenzo Brescia Morra,Alessandro Filla,Filosto Massimo,Angela Marsili,Pensato Viviana,Giorgia Puorro,Vincenzo La Bella,Giancarlo Logroscino,Maria Rosaria Monsurrò,Aldo Quattrone,Isabella Laura Simone,Kreshnik B. Ahmeti,Senda Ajroud-Driss,Jennifer Armstrong,Anne Birve,Hylke M. Blauw,Lucie Bruijn,Wenjie Chen,Mary C. Comeau,Simon Cronin,Gkazi Athina Soraya,Josh D. Grab,Ewout J N Groen,Jonathan L. Haines,Scott Heller,Jie Huang,Wu-Yen Hung,James M. Jaworski,Humaira Khan,Carl D. Langefeld,Miranda C. Marion,Russell L. McLaughlin,Jack W. Miller,Gabriele Mora,Margaret A. Pericak-Vance,Evadnie Rampersaud,Nailah Siddique,Teepu Siddique,Bradley N. Smith,Robert L. Sufit,Simon Topp,Caroline Vance,Paul W.J. van Vught,Yi Yang,J.G. Zheng +110 more
TL;DR: The results provide an insight into the genetic structure of sporadic ALS, confirming that common variation contributes to risk and that sufficiently powered studies can identify novel susceptibility loci, and estimated the contribution of common variation to heritability of sporadicALS as ∼12% using a linear mixed model accounting for all SNPs.
Journal ArticleDOI
Genetics of Amyotrophic Lateral Sclerosis
Mehdi Ghasemi,Robert H. Brown +1 more
TL;DR: Findings from ALS genetics provide new insight into therapies that target genetically distinct subsets of ALS and FTD, as well as numerous downstream pathophysiological events.
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