新疆维吾尔族和汉族阿尔茨海默病患者载脂蛋白E基因的多态性研究

Association study of apoHpoprotein E gene polymorphism and Alzheimer disease in Xinjiang Uygur population and Han population

目的探讨新疆维吾尔族（以下简称维族）与汉族阿尔茨海默病（AD）患者载脂蛋白E（apoE）基因型及等位基因频率的分布及其异同。方法在流行病学调查基础上，采用美国神经病学会、语言障碍和卒中一老年性痴呆和相关疾病学会制定的标准，诊断为很可能AD的患者209例（汉族98例、维族111例）及正常对照220名（汉族103名、维族117名），应用聚合酶链反应～限制性片段长度多态分析方法，检测两组apoE基因多态性。结果（1）AD组及对照组组内维、汉两民族受试者apoE基因型频率和等位基因频率整体分布的差异无统计学意义（P〉0．05）；但AD组ε3／4基因型（28．2％）和ε4等位基因频率（14．8％）均高于对照组（分别为13．2％和8．0％，P〈0．05）。（2）在维、汉两民族中，AD组ε3／4基因型频率（维族：30．6％；汉族：25．5％）和ε4等位基因频率（维族：15．8％；汉族：13．8％）均高于本民族对照组（ε3／4基因型频率分别为维族：14．5％，汉族：11．7％；ε4等位基因频率分别为维族：9．4％，汉族：6．3％；P均〈0．05）。（3）AD组男性维族患者ε3／4基因型频率（31％）高于对照组男性维族受试者（11％）；AD组女性维族患者（16％）和汉族患者4等位基因频率（14％），分别高于对照组女性维族受试者（8％）和汉族受试者（7％；P均〈0．05）。结论apoE基因型及等位基因频率在维、汉民族间的分布相似；apoE84等位基因是AD的危险因素，在维、汉两民族女性AD的发病中起重要作用。

Objective To study the difference and distribution of apolipoprotein E （apoE） genotypes and allele frequency in Xinjiang Uygur population and Hart population with Alzheimer disease （AD）. Methods The apoE gene polymorphism was analyzed in 209 cases diagnosed according to the NINCDS/ADRDA criteria and 220 normal controls by using polymerase chain reaction-restriction fragment length polymorphism on the basis of an epidemiological survey. Results （ 1 ） Both in AD group and control group, there were no statistical differences in apoE genotypes and allele frequency between Uygur population and Han population （ P 〉 0.05 ）. The frequencies of 63/4 genotype （ 28.2% ） and ε4 allele （ 14. 8% ） were higher in AD group than controls （ 13.2% and 8.0%, P 〈0. 05）. （2） In AD group, the frequencies of 63/4 genotype （30. 6% in Uygur and 25.5% in Hall） and ε4 allele （ 15.8% in Uygur and 13.8% in Hart） were higher than that in controls of the same population （63/4 genotype： 14. 5% in Uygur and 11.7% in Han; ε4 allele ： 9.4% in Uygur and 6. 3% in Han ; P 〈 0. 05 ）. （ 3 ） The frequency of ε3/4 genotype was higher among Uygur male cases with AD （31%） than controls （11%） ; and the ε4 allele frequencies were higher in female AD eases of Uygur and Han （16% and 14% ） than controls （8% and 7% ）. Conclusions There are no differences in distribution of apoE genotype and allele frequency between the Uygur population and Han population. The apoE ε4 allele may be a risk factor for AD, especially in females.