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Title: β-defensin genomic copy number does not influence the age of onset in Huntington’s disease
Authors: Vittori, Angelica
Orth, Michael
Roos, Raymund A. C.
Outeiro, Tiago F.
Giorgini, Flaviano
Hollox, Edward J.
REGISTRY investigators of the European Huntington’s Disease Network
First Published: 27-Mar-2013
Publisher: IOS Press
Citation: Journal of Huntington's Disease, 2013, 2 (1), pp. 107-124
Abstract: Background: Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammation is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2) – encoded by DEFB4 – is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD. Objective: In this study we tested the hypothesis that copy number variation (CNV) of the β-defensin region, including DEFB4, modifies the AO in HD. Methods and results: We genotyped β-defensin CNV in 490 HD individuals using the paralogue ratio test and found no association between β-defensin CNV and onset of HD. Conclusions: We conclude that it is unlikely that DEFB4 plays a role in HD pathogenesis.
DOI Link: 10.3233/JHD-130047
ISSN: 1879-6397
eISSN: 1879-6400
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2013 IOS Press and the authors. This is an open-access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Appears in Collections:Published Articles, Dept. of Genetics

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