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ATXN2 trinucleotide repeat length correlates with risk of ALS

Authors :: Pietro Fratta
Aleksey Shatunov
Isabelle Le Ber
Vincenzo La Bella
Owen A. Ross
Peter M. Andersen
Tim Van Langenhove
François Salachas
Monica Forzan
John Powell
Jan H. Veldink
Andrea Malaspina
Claire Troakes
Maria del Mar Amador
Christine Van Broeckhoven
Nancy M. Bonini
Stéphanie Millecamps
Daniel Stahl
Cinzia Gellera
Aaron D. Gitler
John Hardy
Vincent Meininger
Giovanni Stevanin
Katie Sidle
Serena Lattante
Gianni Sorarù
Ben Gaastra
Leonard H. van den Berg
Christopher Shaw
Philip Van Damme
Guy A. Rouleau
Safa Al-Sarraj
Bing-Wen Soong
Richard W. Orrell
Maryam Shoai
Yi-Chung Lee
Isabella Fogh
Hussein Daoud
Rosa Rademakers
Wim Robberecht
Ashley R. Jones
Wouter van Rheenen
Ammar Al-Chalabi
Bradley N. Smith
Francesca Luisa Conforti
Edor Kabashi
William Sproviero
Sproviero, W.
Shatunov, A.
Stahl, D.
Shoai, M.
van Rheenen, W.
Jones, A.
Al Sarraj, S.
Andersen, P.
Bonini, N.
Conforti, F.
Van Damme, P.
Daoud, H.
Del Mar Amador, M.
Fogh, I.
Forzan, M.
Gaastra, B.
Gellera, C.
Gitler, A.
Hardy, J.
Fratta, P.
LA BELLA, V.
Le Ber, I.
Van Langenhove, T.
Lattante, S.
Lee, Y.
Malaspina, A.
Meininger, V.
Millecamps, S.
Orrell, R.
Rademakers, R.
Robberecht, W.
Rouleau, G.
Ross, O.
Salachas, F.
Sidle, K.
Smith, B.
Soong, B.
Sorarù, G.
Stevanin, G.
Kabashi, E.
Troakes, C.
van Broeckhoven, C.
Veldink, J.
van den Berg, L.
Shaw, C.
Powell, J.
Al Chalabi, A.
Source :: Neurobiology of aging, Neurobiology of aging (2017)., info:cnr-pdr/source/autori:Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, Gaastra B, Gellera C, Gitler AD, Hardy J, Fratta P, La Bella V, Le Ber I, Van Langenhove T, Lattante S, Lee YC, Malaspina A, Meininger V, Millecamps S, Orrell R, Rademakers R, Robberecht W, Rouleau G, Ross OA, Salachas F, Sidle K, Smith BN, Soong BW, Sorarù G, Stevanin G, Kabashi E, Troakes C, van Broeckhoven C, Veldink JH, van den Berg LH, Shaw CE, Powell JF, Al-Chalabi A./titolo:ATXN2 trinucleotide repeat length correlates with risk of ALS./doi:/rivista:Neurobiology of aging/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume, Sproviero, W, Shatunov, A, Stahl, D, Shoai, M, van Rheenen, W, Jones, A R, Al-Sarraj, S, Andersen, P M, Bonini, N M, Conforti, F L, Van Damme, P, Daoud, H, Del Mar Amador, M, Fogh, I, Forzan, M, Gaastra, B, Gellera, C, Gitler, A D, Hardy, J, Fratta, P, La Bella, V, Le Ber, I, Van Langenhove, T, Lattante, S, Lee, Y-C, Malaspina, A, Meininger, V, Millecamps, S, Orrell, R, Rademakers, R, Robberecht, W, Rouleau, G, Ross, O A, Salachas, F, Sidle, K, Smith, B N, Soong, B-W, Sorarù, G, Stevanin, G, Kabashi, E, Troakes, C, van Broeckhoven, C, Veldink, J H, van den Berg, L H, Shaw, C E, Powell, J F & Al-Chalabi, A 2017, ' ATXN2 trinucleotide repeat length correlates with risk of ALS ', Neurobiology of Aging, vol. 51, pp. 178.e1-178.e9 . https://doi.org/10.1016/j.neurobiolaging.2016.11.010, Neurobiology of Aging, Neurobiology of Aging, 51, 178.e1. Elsevier Inc.
Publication Year :: 2017
Publisher :: Elsevier BV, 2017.
Abstract: We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls, and a Dutch dataset of 1328 ALS cases and 691 controls were analyzed. In addition, to increase power, we systematically searched PubMed for case-control studies published after 1 August 2010 that investigated the association between ATXN2 intermediate repeats and ALS. We conducted a meta-analysis of the new and existing studies for the relative risks of ATXN2 intermediate repeat alleles of between 24 and 34 CAG trinucleotide repeats and ALS. There was an overall increased risk of ALS for those carrying intermediate sized trinucleotide repeat alleles (odds ratio 3.06 [95% confidence interval 2.37-3.94]; p = 6 × 10(-18)), with an exponential relationship between repeat length and ALS risk for alleles of 29-32 repeats (R(2) = 0.91, p = 0.0002). No relationship was seen for repeat length and age of onset or survival. In contrast to trinucleotide repeat diseases, intermediate ATXN2 trinucleotide repeat expansion in ALS does not predict age of onset but does predict disease risk. publisher: Elsevier articletitle: ATXN2 trinucleotide repeat length correlates with risk of ALS journaltitle: Neurobiology of Aging articlelink: http://dx.doi.org/10.1016/j.neurobiolaging.2016.11.010 content_type: article copyright: © 2016 The Author(s). Published by Elsevier Inc. ispartof: Neurobiology of Aging vol:51 pages:178- ispartof: location:United States status: published