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Intermediate CAG Repeat Expansion in the ATXN2 Gene Is a Unique Genetic Risk Factor for ALS−A Systematic Review and Meta-Analysis of Observational Studies

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  • Ming-Dong Wang
  • James Gomes
  • Neil R Cashman
  • Julian Little
  • Daniel Krewski

Abstract

Amyotrophic lateral sclerosis (ALS) is a rare degenerative condition of the motor neurons. Over 10% of ALS cases are linked to monogenic mutations, with the remainder thought to be due to other risk factors, including environmental factors, genetic polymorphisms, and possibly gene-environmental interactions. We examined the association between ALS and an intermediate CAG repeat expansion in the ATXN2 gene using a meta-analytic approach. Observational studies were searched with relevant disease and gene terms from MEDLINE, EMBASE, and PsycINFO from January 2010 through to January 2014. All identified articles were screened using disease terms, gene terms, population information, and CAG repeat information according to PRISMA guidelines. The final list of 17 articles was further evaluated based on the study location, time period, and authors to exclude multiple usage of the same study populations: 13 relevant articles were retained for this study. The range 30–33 CAG repeats in the ATXN2 gene was most strongly associated with ALS. The meta-analysis revealed that the presence of an intermediate CAG repeat (30-33) in the ATXN2 gene was associated with an increased risk of ALS [odds ratio (OR) = 4.44, 95%CI: 2.91–6.76)] in Caucasian ALS patients. There was no significant difference in the association of this CAG intermediate repeat expansion in the ATXN2 gene between familial ALS cases (OR = 3.59, 1.58–8.17) and sporadic ALS cases (OR = 3.16, 1.88–5.32). These results indicate that the presence of intermediate CAG repeat expansion in the ATXN2 gene is a specific genetic risk factor for ALS, unlike monogenic mutations with an autosomal dominant transmission mode, which cause a more severe phenotype of ALS, with a higher prevalence in familial ALS.

Suggested Citation

  • Ming-Dong Wang & James Gomes & Neil R Cashman & Julian Little & Daniel Krewski, 2014. "Intermediate CAG Repeat Expansion in the ATXN2 Gene Is a Unique Genetic Risk Factor for ALS−A Systematic Review and Meta-Analysis of Observational Studies," PLOS ONE, Public Library of Science, vol. 9(8), pages 1-9, August.
  • Handle: RePEc:plo:pone00:0105534
    DOI: 10.1371/journal.pone.0105534
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    References listed on IDEAS

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    1. José Miguel Laffita-Mesa & Jorge Michel Rodríguez Pupo & Raciel Moreno Sera & Yaimee Vázquez Mojena & Vivian Kourí & Leonides Laguna-Salvia & Michael Martínez-Godales & José A Valdevila Figueira & Pet, 2013. "De Novo Mutations in Ataxin-2 Gene and ALS Risk," PLOS ONE, Public Library of Science, vol. 8(8), pages 1-13, August.
    2. Andrew C. Elden & Hyung-Jun Kim & Michael P. Hart & Alice S. Chen-Plotkin & Brian S. Johnson & Xiaodong Fang & Maria Armakola & Felix Geser & Robert Greene & Min Min Lu & Arun Padmanabhan & Dana Clay-, 2010. "Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS," Nature, Nature, vol. 466(7310), pages 1069-1075, August.
    3. Alessandro Liberati & Douglas G Altman & Jennifer Tetzlaff & Cynthia Mulrow & Peter C Gøtzsche & John P A Ioannidis & Mike Clarke & P J Devereaux & Jos Kleijnen & David Moher, 2009. "The PRISMA Statement for Reporting Systematic Reviews and Meta-Analyses of Studies That Evaluate Health Care Interventions: Explanation and Elaboration," PLOS Medicine, Public Library of Science, vol. 6(7), pages 1-28, July.
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