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首页> 外文期刊>The journals of gerontology.Series A. Biological sciences and medical sciences >The cathepsin D (224C/T) polymorphism confers an increased risk to develop Alzheimer's disease in men.
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The cathepsin D (224C/T) polymorphism confers an increased risk to develop Alzheimer's disease in men.

机译：组织蛋白酶D（224C / T）多态性使男性罹患阿尔茨海默氏病的风险增加。

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摘要

The lysosomal protease cathepsin D is likely involved in beta-amyloidogenesis in Alzheimer's disease (AD). There is evidence for a single nucleotide polymorphism (rs17571) of the cathepsin D gene to be associated with increased AD risk. However, little is known about gender-specific differences. Therefore, we performed a genetic association study focusing on gender-specific differences in 434 participants (219 AD and 215 controls). Screening of the rs17571 shows a significantly higher proportion of T-allele carriers among male Alzheimer patients (28.5%) when compared with male controls (13.8%, p = .013, p(corr) = .039). The odds ratio was 2.48 (95% confidence interval: 1.14-5.58). There was no significant difference in the T-allele distribution in women. Including APOE4 status and age did not have an additional effect on the morbidity risk. Thus, our results support the idea that rs17571 confers an increased risk for AD in men but not in women. Further investigation should substantiate the role of gender for AD risk of rs17571.
机译：溶酶体蛋白酶组织蛋白酶D可能参与了阿尔茨海默氏病（AD）的β-淀粉样蛋白生成。有证据表明组织蛋白酶D基因的单核苷酸多态性（rs17571）与增加的AD风险有关。但是，关于性别差异的了解很少。因此，我们进行了一项遗传关联研究，重点研究了434名参与者（219名AD和215名对照）中的性别差异。与男性对照（13.8％，p = .013，p（corr）= .039）相比，对rs17571的筛查显示，男性阿尔茨海默氏症患者中T等位基因携带者的比例显着更高（28.5％）。优势比为2.48（95％置信区间：1.14-5.58）。女性的T等位基因分布没有显着差异。包括APOE4的状态和年龄对发病风险没有其他影响。因此，我们的结果支持rs17571在男性而非女性中增加AD风险的想法。进一步的调查应证实性别对于rs17571的AD风险的作用。

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