β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease
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β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease. / 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.
In: J HUNTINGTONS DIS, Vol. 2, No. 1, 2013, p. 107-24.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease
AU - Vittori, Angelica
AU - Orth, Michael
AU - Roos, Raymund A C
AU - Outeiro, Tiago F
AU - Giorgini, Flaviano
AU - Hollox, Edward J
AU - REGISTRY Investigators of the European Huntington’s Disease Network
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - Adult
KW - Age of Onset
KW - DNA Copy Number Variations
KW - Female
KW - Genotype
KW - Humans
KW - Huntington Disease
KW - Male
KW - Middle Aged
KW - beta-Defensins
KW - Journal Article
KW - Research Support, Non-U.S. Gov't
U2 - 10.3233/JHD-130002
DO - 10.3233/JHD-130002
M3 - SCORING: Journal article
C2 - 25057107
VL - 2
SP - 107
EP - 124
JO - J HUNTINGTONS DIS
JF - J HUNTINGTONS DIS
SN - 1879-6397
IS - 1
ER -
