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载脂蛋白 E4 和 C1 与发病年龄和记忆的关联:台湾散发性阿尔茨海默病的研究。

Association of apolipoproteins e4 and c1 with onset age and memory: a study of sporadic Alzheimer disease in Taiwan.

机构信息

Department of Neurology, Chang Gung Memorial Hospital and University, Taipei, Taiwan.

出版信息

J Geriatr Psychiatry Neurol. 2010 Mar;23(1):42-8. doi: 10.1177/0891988709351804.

Abstract

OBJECTIVE

To identify clinical manifestations and neuropsychological effects of Alzheimer disease (AD) in apolipoprotein (ApoE) e4 carriers and to investigate the relationships between ApoE HhaI polymorphism and apolipoprotein C1 (APOC1) HpaI polymorphism in Taiwanese patients with AD.

PARTICIPANTS AND METHODS

A total of 127 patients with AD and 191 elderly individuals were screened for ApoE and APOC1 polymorphism. All patients underwent neuropsychological testing, including a Mini-Mental Status Examination (MMSE), Clinical Dementia Rating (CDR), and/or the Visual Association Memory Test (VAMT) with Cognitive Abilities Screening Instrument.

RESULTS

The frequencies of the e4 and A alleles were significantly higher in the AD group. In the patients with AD, the e4 and A allele effects on those with an age-of-onset of 60 to 79 years were stronger than those with an age-of-onset of 80 years or higher. Visual Association Memory Test performance was significantly worse in e4-allele carriers but not in A-allele carriers, in the early AD, particularly in those affected with AD for less than 2 years. Although there was no statistically significant difference in genotypic frequency between patients and controls, the 2 genes were linked. In addition, the presence of the AA genotype concomitant with the e4 allele may be better associated with AD diagnosis than either factor alone.

CONCLUSION

We conclude that the e4 allele affects neuropsychological performance and illness morbidity. Concomitantly, ApoE e4 and APOC1 A alleles have a better association with AD than ApoE e4 alone. In addition, APOC1 may partially contribute to the pathogenesis of AD, but the nature of its relationship with e4 requires further investigation.

摘要

目的

确定载脂蛋白(ApoE)e4 携带者阿尔茨海默病(AD)的临床表现和神经心理学影响,并探讨 ApoE HhaI 多态性与 APOC1 HpaI 多态性在台湾 AD 患者中的关系。

参与者和方法

共筛选了 127 例 AD 患者和 191 例老年个体的 ApoE 和 APOC1 多态性。所有患者均进行神经心理学测试,包括 Mini-Mental State Examination(MMSE)、临床痴呆评定(CDR)和/或认知能力筛查工具视觉联想记忆测试(VAMT)。

结果

AD 组的 e4 和 A 等位基因频率明显较高。在 AD 患者中,e4 和 A 等位基因对发病年龄为 60-79 岁的患者的影响强于发病年龄为 80 岁或更高的患者。e4 等位基因携带者的视觉联想记忆测试表现明显较差,但 A 等位基因携带者则无此表现,尤其是在 AD 发病不足 2 年的患者中。虽然患者和对照组的基因型频率无统计学差异,但这 2 个基因是连锁的。此外,AA 基因型与 e4 等位基因同时存在可能与 AD 诊断的相关性优于任一因素单独存在。

结论

我们得出结论,e4 等位基因影响神经心理学表现和疾病发病情况。此外,ApoE e4 和 APOC1 A 等位基因与 AD 的相关性优于 ApoE e4 单独存在。此外,APOC1 可能部分参与 AD 的发病机制,但它与 e4 的关系性质需要进一步研究。

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