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载脂蛋白 E 基因多态性与维吾尔族和汉族人群阿尔茨海默病的关系。

Association between apolipoprotein E gene polymorphism and Alzheimer's disease in Uighur and Han populations.

机构信息

The First Department of Cadre, Xinjiang Medical University, Urumqi, China.

出版信息

Psychogeriatrics. 2012 Jun;12(2):83-7. doi: 10.1111/j.1479-8301.2011.00389.x.

DOI:10.1111/j.1479-8301.2011.00389.x
PMID:22712640
Abstract

AIM

Currently, there are almost 100 genes related to Alzheimer's disease (AD), and studies have indicated that apolipoprotein E (APO E) ε4 allele is a genetic risk factor of AD. However, there have been no reports of the distributions of APO E genotypes and allele frequencies in Uighur and Han AD patients.

METHODS

We analyzed APO E gene polymorphism in 209 AD cases diagnosed based on National Institute of Neurological and Communicative Disorders and Stroke and Alzheimer's Disease and Related Disorders Association and 220 non-dementia controls. We used polymerase chain reaction-restriction fragment length polymorphism methods as the basis of this epidemiological survey.

RESULTS

In the AD and control groups, there are no statistically significant differences in APO E genotypes and allele frequency between the Uighur and Han ethnicities (P < 0.05). In the AD group, the ε3/4 genotype (28.2%) and ε4 allele frequency (14.8%) occurred at a higher rate than in the control (13.2% and 8.0%, respectively; P < 0.05). This distinction remained true within each ethnicity; the ε3/4 genotype and ε4 allele frequency are higher in the AD groups (Uighur, 30.6% and 15.8%, respectively; Han, 25.5% and 13.8%, respectively) than in the control groups (Uighur, 14.5% and 9.4%, respectively; Han, 11.7% and 6.3%, respectively; P < 0.05).

CONCLUSIONS

The distribution of APO E genotype and allele frequency does not differ between the Uighur and Han ethnicities. The APO E ε4 allele is a risk factor of AD for both populations.

摘要

目的

目前与阿尔茨海默病(AD)相关的基因近 100 个,研究表明载脂蛋白 E(APOE)ε4 等位基因为 AD 的遗传危险因素。但维吾尔族和汉族 AD 患者 APOE 基因型和等位基因频率的分布尚未见报道。

方法

采用聚合酶链反应-限制性片段长度多态性方法,对 209 例经美国国立神经病、语言障碍和卒中研究所-阿尔茨海默病及相关疾病协会诊断为 AD 的患者和 220 例非痴呆对照者的 APOE 基因多态性进行分析。

结果

AD 组和对照组维吾尔族和汉族间 APOE 基因型和等位基因频率差异均无统计学意义(P>0.05)。AD 组ε3/4 基因型(28.2%)和ε4 等位基因频率(14.8%)高于对照组(分别为 13.2%和 8.0%,P<0.05)。这种差异在各民族中均存在,AD 组ε3/4 基因型和ε4 等位基因频率高于对照组(维吾尔族分别为 30.6%和 15.8%,汉族分别为 25.5%和 13.8%,P<0.05)。

结论

维吾尔族和汉族间 APOE 基因型和等位基因频率分布无差异,APOE ε4 等位基因是两个民族 AD 的危险因素。

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