散发性阿尔茨海默病早老素-2基因调节区的多态性:一项病例对照研究

Polymorphism of the regulatory region of the presenilin-2 gene in sporadic Alzheimer's disease: A case-control study

Objective: presenilin- 2 is one of the causative genes for familial Alzheimer’s disease, and the apolipoprotein E∈ 4 allele is a major genetic risk factor for late-onset and sporadic early-onset Alzheimer’s disease. Polymorphism of the regulatory region of presenilin- 2 has recently been reported to be associated with sporadic Alzheimer’s disease in a Russian population. The purpose of this study was to determine whether Alzheimer’s disease is associated with the presenilin- 2 gene polymorphism and the apolipoprotein E genotype in an extended case-control study. Methods: We examined 230 patients with Alzheimer s disease, along with an equal number of age-and sex-matched controls from the same community, in a Japanese population by using a Chi-square test for homogeneity and a logistic regression analysis. Results: The presenilin-2 polymorphism frequencies were similar in early-onset Alzheimer’s disease patients (0.17) and younger controls (0.15), and in late-onset Alzheimer’s disease (0.20) and elderly controls (0.20). We found no evidence for an association between the presenilin-2 polymorphism and the apolipoprotein E∈ 4 allele. Conclusions: Our results fail to support an association of presenilin- 2 gene polymorphism with Alzheimer’s disease. The discrepancy between our results and the results of the Russian study appear to be due to racial differences.

Objective： presenilin- 2 is one of the causative genes for familial Alzheimer＇s disease, and the apolipoprotein E ∈ 4 allele is a major genetic risk factor for late-onset and sporadic early-onset Alzheimer＇s disease. Polymorphism of the regulatory region of presenilin- 2 has recently been reported to be associated with sporadic Alzheimer＇s disease in a Russian population. The purpose of this study was to determine whether Alzheimer＇s disease is associated with the presenilin- 2 gene polymorphism and the apolipoprorein E genotype in an extended case-control study. Methods： We examined 230 patients with Alzheimer＇s disease, along with an equal number of age-and sex-matched controis from the same community, in a Japanese population by using a Chi-square test for homogeneity and a logistic regression analysis. Results： The presenilin-2 polymorphism frequencies were similar in early-onset Alzheimer＇s disease patients （0. 17） and younger controls （0. 15）, and in late-onset Alzheimer＇s disease （0.20） and elderly controls （0. 20） . We found no evidence for an association between the presenilin-2 polymorphism and the apolipoprotein E ∈ 4 allele. Conclusions： Our results fail to support an association of presenilin -2 gene polymorphism with Alzheimer＇s disease. The discrepancy between our results and the results of the Russian study appear to be due to racial differences.