痴呆患者及认知功能正常的配偶对照者的载脂蛋白E基因型与家族史
ApoE genotype and family history in patients with dementia and cognitively intact spousal controls.
作者信息
Zintl Maria, Schmitz Gerd, Hajak Göran, Klünemann Hans-Hermann
机构信息
Department of Psychiatry, Psychosomatics and Psychotherapy, University of Regensburg, School of Medicine, Regensburg, Germany.
出版信息
Am J Alzheimers Dis Other Demen. 2009 Aug-Sep;24(4):349-52. doi: 10.1177/1533317509333040. Epub 2009 Apr 16.
OBJECTIVE
To test that a positive family history and ApoE e4 genotype are prevalent among dementia patients with onset before 70 years of age compared with healthy spousal controls.
METHODS
A total of 210 patients with dementia and 82 spousal control participants. Neuropsychiatric examination, Consortium to establish a registry on Alzheimer's disease test battery, Clock-drawing Test, and ApoE genotyping were performed in patients and controls.
RESULTS
Of the 131 patients with Alzheimer dementia, 25 were homozygous for Apo e4. Among dementia patients with a positive family history (n = 83), homozygosity for the Apo e4 genotype was found in 19 (22.9%). A positive family history was highest among Apo e4 homozygous Alzheimer dementia patients (72.0%) and lowest among the cognitively normal spousal controls (9.3%).
CONCLUSIONS
In our sample of patients with Alzheimer dementia, approximately 3 of 4 (72.0%) were homozygous for the genotype Apo e4 when they had a positive family history.
目的
与健康配偶对照相比，检测70岁之前发病的痴呆患者中阳性家族史和载脂蛋白E（ApoE）ε4基因型是否普遍存在。
方法
共有210例痴呆患者和82名配偶对照参与者。对患者和对照者进行神经精神检查、阿尔茨海默病注册协会测试组、画钟试验和ApoE基因分型。
结果
在131例阿尔茨海默病痴呆患者中，25例为Apo ε4纯合子。在有阳性家族史的痴呆患者（n = 83）中，19例（22.9%）发现Apo ε4基因型纯合性。Apo ε4纯合子阿尔茨海默病痴呆患者的阳性家族史比例最高（72.0%），认知正常的配偶对照中最低（9.3%）。
结论
在我们的阿尔茨海默病痴呆患者样本中，约四分之三（72.0%）有阳性家族史的患者为Apo ε4基因型纯合子。
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