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J Huntingtons Dis. 2013 Mar 27;2(1):107-124.

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease.

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Department of Genetics, University of Leicester, Leicester, UK ; Cell and Molecular Neuroscience Unit, Instituto de Medicina Molecular, Lisboa, Portugal.
Department of Neurology, University of Ulm, Ulm, Germany.
Leiden University Medical Center, Department of Neurology, The Netherlands.
Cell and Molecular Neuroscience Unit, Instituto de Medicina Molecular, Lisboa, Portugal ; Faculdade de Medicina da Universidade de Lisboa, Instituto de Fisiologia, Lisboa, Portugal ; University Medical Center Göttingen, Department of NeuroDegeneration and Restorative Research, Göttingen, Germany.
Department of Genetics, University of Leicester, Leicester, UK.



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.


In this study we tested the hypothesis that copy number variation (CNV) of the β-defensin region, including DEFB4, modifies the AO in HD.


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.


We conclude that it is unlikely that DEFB4 plays a role in HD pathogenesis.


Genetic modifier; copy number variation; inflammation

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