痴呆患者载脂蛋白E基因型及表型的研究

Study on the association of apolipoprotein E polymorphism with demented patients

目的研究载脂蛋白Ｅ（ＡｐｏＥ）多态性与痴呆疾病的关系。方法对对照组（５３例）和痴呆组［其中包括Ａｌｚｈｅｉｍｅｒ’ｓ病（ＡＤ）１８例，血管性痴呆（ＶＤ）２３例和帕金森病痴呆（ＰＤＤ）１３例］的载脂蛋白Ｅ基因频率和表型多态性的关系进行了比较。结果对照组ＡｐｏＥ基因频率以ε３最为常见，占９２．５％，其表型分布以Ｅ３／３型为主（占８６．８％）；在痴呆组中，ＡＤ组ＡｐｏＥε４和ε２基因频率分别为１９．４％和１３．９％，明显多于对照组（Ｐ＜０．０５～０．０１），而ＶＤ组和ＰＤＤ组ＡｐｏＥε４和ε２基因频率与非痴呆对照组相比差别无显著性（Ｐ＞０．０５）；ＡＤ组ＡｐｏＥ表型中的Ｅ３／４型和Ｅ２／３型明显高于对照组，而ＶＤ组和ＰＤＤ组中其他各型差异均不显著。结论ＡｐｏＥε４和ε２与ＡＤ关系极为密切。

Objective The aim of the present study is to study the association of demented patients with apolipoprotein E (Apo E) polymorphism. Methods The comparison of allelic frequencies and phenotypic distribution of Apo E in non demented controls (53) and the demented cases (54) including Alzheimer's disease (AD) 18, vascular dementia (VD) 23 and Parkinson's disease with dementia (PDD) 13 cases. Results The allelic frequency of Apo E ε3 was more frequent and the phenotype of Apo E 3/3 was more common in the non demented control group, accounting for 92.5% and 86.8% respectively. The frequencies of Apo E ε4 and ε2 alleles were much significantly increased in AD (19 4% and 13.9%) than in the non demented controls ( P <0.05). In contrast, the allelic frequencies of Apo Eε4 and ε2 were not statistically increased in VD and PDD as compared with these in the non demented controls ( P >0.05). The phenotypes of E 3/4 and E 2/3 were more predominant in the AD group but not much increased in the VD and PDD groups. Conclusion Apo E ε4 and ε2 alleles are associated with the increased risk of AD, while the relationships between Apo E polymorphism and VD and PDD should be further studied in detail.