载脂蛋白E基因型不影响亨廷顿舞蹈病的发病年龄。
Apolipoprotein E genotypes do not influence the age of onset in Huntington's disease.
作者信息
Saft C, Andrich J E, Brune N, Gencik M, Kraus P H, Przuntek H, Epplen J T
机构信息
Huntington Center NRW, Department of Neurology, St Josef Hospital, Ruhr-University Bochum, Bochum, Germany.
出版信息
J Neurol Neurosurg Psychiatry. 2004 Dec;75(12):1692-6. doi: 10.1136/jnnp.2003.022756.
OBJECTIVE
The epsilon4 allele of the apolipoprotein E (ApoE) gene has been defined as a critical factor for early onset neurodegeneration in Pick's, Parkinson's, and Alzheimer's disease. Unexpectedly, the epsilon4 allele appeared to delay the age of onset in Huntington's disease (HD) patients. Furthermore, sex specific effects were reported on earlier age of onset due to the ApoE epsilon2epsilon3 genotype in males with HD. The age of onset of HD is known to be negatively correlated with increasing lengths of pathogenetic CAG expansions in the huntingtin gene.
METHODS
In order to examine the effects of CAG block lengths, we have correlated ApoE genotypes with the age of onset in 145 patients symptomatic for HD with psychiatric and somatic symptoms (depression, psychosis, dementia, choreic, and other movement disorders) harbouring only modestly expanded huntingtin alleles (41-45 CAGs).
RESULTS
The negative correlation between age of onset and CAG block length was established in our HD cohort. Statistically significant effects of the epsilon4 allele were not obvious regarding clinical characteristics including age of onset, nor were any sex differences for the epsilon2epsilon3 genotype observed.
CONCLUSION
The ApoE genotype does not affect the course of HD significantly.
目的
载脂蛋白E（ApoE）基因的ε4等位基因已被确定为皮克病、帕金森病和阿尔茨海默病早期神经退行性变的关键因素。出乎意料的是，ε4等位基因似乎会延迟亨廷顿舞蹈病（HD）患者的发病年龄。此外，有报道称，HD男性患者中，由于ApoE ε2ε3基因型，发病年龄存在性别特异性影响。已知HD的发病年龄与亨廷顿基因中致病性CAG重复序列长度的增加呈负相关。
方法
为了研究CAG重复序列长度的影响，我们将145例有精神症状和躯体症状（抑郁、精神病、痴呆、舞蹈症及其他运动障碍）的HD症状患者的ApoE基因型与发病年龄进行了关联分析，这些患者仅携带中等程度扩增的亨廷顿等位基因（41 - 45个CAG）。
结果
在我们的HD队列中，发病年龄与CAG重复序列长度之间建立了负相关。ε4等位基因对包括发病年龄在内的临床特征的统计学显著影响并不明显，对于ε2ε3基因型也未观察到任何性别差异。
结论
ApoE基因型对HD病程没有显著影响。
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