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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 neuroinflammations 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.

Original publication

DOI

10.3233/JHD-130002

Type

Journal article

Journal

J Huntingtons Dis

Publication Date

2013

Volume

2

Pages

107 - 124

Keywords

Adult, Age of Onset, DNA Copy Number Variations, Female, Genotype, Humans, Huntington Disease, Male, Middle Aged, beta-Defensins