@article{7dfb9d85b5db4bc381080af2e94077ff,
title = "ATXN2 trinucleotide repeat length correlates with risk of ALS",
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.",
keywords = "ALS, ATXN2, Age of onset, Aging, Amyotrophic lateral sclerosis, CAG, Developmental Biology, Expansion, Exponential risk, Geriatrics and Gerontology, Intermediate expansion, Neurology (clinical), Neuroscience (all), Risk, SCA2, Trinucleotide repeat, Triplet, ALS, ATXN2, Age of onset, Aging, Amyotrophic lateral sclerosis, CAG, Developmental Biology, Expansion, Exponential risk, Geriatrics and Gerontology, Intermediate expansion, Neurology (clinical), Neuroscience (all), Risk, SCA2, Trinucleotide repeat, Triplet",
author = "{La Bella}, Vincenzo and Edor Kabashi and Pietro Fratta and Isabella Fogh and Hussein Daoud and Monica Forzan and {Van Langenhove}, Tim and Serena Lattante and Shaw, {Christopher E.} and Gianni Sorar{\`u} and {Van Rheenen}, Wouter and William Sproviero and Jones, {Ashley R.} and Maryam Shoai and Aleksey Shatunov and Andersen, {Peter M.} and Andersen, {Peter M.} and Veldink, {Jan H.} and John Hardy and Giovanni Stevanin and {Van Den Berg}, {Leonard H.} and Daniel Stahl and {Del Mar Amador}, Maria and Ben Gaastra and Guy Rouleau and Gitler, {Aaron D.} and Safa Al-Sarraj and Rosa Rademakers and {Le Ber}, Isabelle and Katie Sidle and Andrea Malaspina and Ross, {Owen A.} and Conforti, {Francesca L.} and Ammar Al-Chalabi and Cinzia Gellera and Wim Robberecht and Richard Orrell and Bonini, {Nancy M.} and Bing-Wen Soong and Vincent Meininger and {Van Damme}, Philip and {Van Broeckhoven}, Christine and Powell, {John F.} and Smith, {Bradley N.} and Claire Troakes and Francois Salachas and St{\'e}phanie Millecamps and Yi-Chung Lee",
year = "2017",
language = "English",
volume = "51",
pages = "178--178.e9",
journal = "Neurobiology of Aging",
issn = "0197-4580",
publisher = "Elsevier Inc.",
}