Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
ATXN2 trinucleotide repeat length correlates with risk of ALS
Show others and affiliations
2017 (English)In: Neurobiology of Aging, ISSN 0197-4580, E-ISSN 1558-1497, Vol. 51, 178.e1-178.e9 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2017. Vol. 51, 178.e1-178.e9 p.
Keyword [en]
ALS, ATXN2, Age of onset, Amyotrophic lateral sclerosis, CAG, Expansion, Exponential risk, Intermediate expansion, Risk, SCA2, Trinucleotide repeat, Triplet
National Category
Neurosciences
Identifiers
URN: urn:nbn:se:umu:diva-134980DOI: 10.1016/j.neurobiolaging.2016.11.010ISI: 000397168600022PubMedID: 28017481OAI: oai:DiVA.org:umu-134980DiVA: diva2:1095570
Available from: 2017-05-15 Created: 2017-05-15 Last updated: 2017-05-15Bibliographically approved

Open Access in DiVA

fulltext(1743 kB)16 downloads
File information
File name FULLTEXT01.pdfFile size 1743 kBChecksum SHA-512
7ee43058f7ec311dfe024c8a4d53aead7e2c756f217e0edb018ce94bd4d0af9a3ecd72e92b0f6e4b14dfb8efdb21a98c1a1d1facb430685fc7cadb6f3681f0b9
Type fulltextMimetype application/pdf

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Andersen, Peter M.
By organisation
Clinical Neuroscience
In the same journal
Neurobiology of Aging
Neurosciences

Search outside of DiVA

GoogleGoogle Scholar
Total: 16 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 28 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf