ATXN2 trinucleotide repeat length correlates with risk of ALS

Serena Lattante, William Sproviero, Aleksey Shatunov, Daniel Stahl, Maryam Shoai, Wouter Van Rheenen, Ashley R. Jones, Safa Al-Sarraj, Peter M. Andersen, Nancy M. Bonini, Francesca L. Conforti, Philip Van Damme, Hussein Daoud, Maria Del Mar Amador, Isabella Fogh, Monica Forzan, Ben Gaastra, Cinzia Gellera, Aaron D. Gitler, John HardyPietro Fratta, Vincenzo La Bella, Isabelle Le Ber, Tim Van Langenhove, Yi-Chung Lee, Andrea Malaspina, Vincent Meininger, Stéphanie Millecamps, Richard Orrell, Rosa Rademakers, Wim Robberecht, Guy Rouleau, Owen A. Ross, Francois Salachas, Katie Sidle, Bradley N. Smith, Bing-Wen Soong, Gianni Sorarù, Giovanni Stevanin, Edor Kabashi, Claire Troakes, Christine Van Broeckhoven, Jan H. Veldink, Leonard H. Van Den Berg, Christopher E. Shaw, John F. Powell, Ammar Al-Chalabi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

45 Citazioni (Scopus)

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 (R2 = 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.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaNeurobiology of Aging
Volume51
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • ALS
  • ATXN2
  • Age of onset
  • Amyotrophic lateral sclerosis
  • CAG
  • Expansion
  • Exponential risk
  • Intermediate expansion
  • Risk
  • SCA2
  • Trinucleotide repeat
  • Triplet

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