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载脂蛋白E基因多态性与阿尔茨海默病

Apolipoprotein E polymorphism and Alzheimer's disease.

作者信息

Yen Y C, Liu C K, Lung F W, Chong M Y

机构信息

Department of Psychiatry, Military Kaohsiung General Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

出版信息

Kaohsiung J Med Sci. 2001 Apr;17(4):190-7.

Abstract

We aimed to determine the association and related factors of the apolipoprotein E (ApoE) genotype and Alzheimer's disease (AD) in Taiwan. We examined ApoE genotypes in 50 Chinese patients with AD and 50 age- and sex-matched controls. The patients met the criteria of probable AD of the National Institute of Neurological and Communicative Disorders and Stroke-Alzheimer's Disease and Related Disorders Association (NINCDS-ADRDA) and AD of the Diagnostic and Statistical Manual of Mental Disorders 4th edition (DSM-IV). There were 28 females and 22 males in the case and control groups. The mean age of onset of AD was 72. 62 years. The average interval between onset and research was 3.85 years. The frequency of ApoE epsilon 4 in the AD group was significantly higher than that in the controls (0.13 versus 0.02, p < 0.05). The odds ratio for AD in individuals with at least one ApoE epsilon 4 allele was 6.0 (95% CI 1.34 to 55.3, p < 0.001). The linear trend for AD in proportion to alleles of ApoE epsilon 4 was significant (chi 2 = 8.3, p = 0.004). The risk of ApoE epsilon 4 allele for the late-onset AD patients, males, or those who received less education was higher than that for the early-onset AD patients, females, or those who had received more education. The sensitivity of the epsilon 4 allele was 24%, the specificity 96%, the positive predictive value 86%, and the negative predictive value 56%. Our results supported that the ApoE epsilon 4 allele is related to AD in Taiwan. In addition, sex and education may play important roles in the presence of ApoE epsilon 4 allele. The epsilon 4 allele seemed helpful as an adjunct for diagnostic testing of AD.

摘要

我们旨在确定台湾地区载脂蛋白E(ApoE)基因型与阿尔茨海默病(AD)之间的关联及相关因素。我们检测了50例中国AD患者及50例年龄和性别匹配的对照者的ApoE基因型。这些患者符合美国国立神经疾病与中风研究所 - 阿尔茨海默病及相关疾病协会(NINCDS - ADRDA)的可能AD标准以及《精神疾病诊断与统计手册》第4版(DSM - IV)的AD标准。病例组和对照组中各有28名女性和22名男性。AD的平均发病年龄为72.62岁。发病与研究之间的平均间隔为3.85年。AD组中ApoE ε4的频率显著高于对照组(0.13对0.02,p < 0.05)。至少有一个ApoE ε4等位基因的个体患AD的优势比为6.0(95%可信区间1.34至55.3,p < 0.001)。AD与ApoE ε4等位基因比例的线性趋势显著(χ2 = 8.3,p = 0.004)。ApoE ε4等位基因对晚发型AD患者、男性或受教育程度较低者的风险高于早发型AD患者、女性或受教育程度较高者。ε4等位基因的敏感性为24%,特异性为96%,阳性预测值为86%,阴性预测值为56%。我们的结果支持ApoE ε4等位基因与台湾地区的AD相关。此外,性别和教育在ApoE ε4等位基因的存在方面可能起重要作用。ε4等位基因似乎有助于作为AD诊断检测的辅助手段。

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