Department of Neurology, Xuan Wu Hospital of the Capital Medical University, Beijing, China.
Neurobiol Aging. 2012 May;33(5):1014.e1-9. doi: 10.1016/j.neurobiolaging.2010.08.004. Epub 2010 Sep 28.
Alzheimer's disease (AD) has a complex pattern of inheritance and many genes have recently been reported to contribute to the disease susceptibility. We selected 106 SNPs within 16 candidate genes and performed a multistage association study using 4 sample sets consisting of 731 AD patients and 738 control subjects to identify genetic factors for AD in Han Chinese. A single nucleotide polymorphism (SNP) in the insulin degrading enzyme gene (IDE), rs3781239, showed a significant association with AD. The C allele increased the risk of AD 1.72-fold than the G allele (odds ratio [OR] = 1.72, 95% confidence interval [CI] = 1.17-2.53, p = 0.006) and CC carriers had a 4.89-fold higher risk for AD than that of the carriers with CG and GG genotypes (odds ratio = 4.89, 95% CI = 1.85-12.91, p = 0.001). Moreover, the CC genotype was significantly associated with earlier age at onset (p = 0.001, hazard ratio [HR] = 2.09, 95% CI = 1.38-3.18). Our data suggest that the polymorphism of IDE is associated with susceptibility to Alzheimer's disease in Han Chinese.
阿尔茨海默病（AD）具有复杂的遗传模式，许多基因最近被报道与疾病易感性有关。我们选择了 16 个候选基因中的 106 个 SNP，并使用由 731 名 AD 患者和 738 名对照组成的 4 个样本集进行了多阶段关联研究，以确定汉族人群中 AD 的遗传因素。胰岛素降解酶基因（IDE）中的一个单核苷酸多态性（SNP）rs3781239 与 AD 显著相关。C 等位基因使 AD 的风险增加 1.72 倍，而 G 等位基因（比值比[OR] = 1.72，95%置信区间[CI] = 1.17-2.53，p = 0.006），CC 携带者比 CG 和 GG 基因型携带者患 AD 的风险高 4.89 倍（比值比= 4.89，95%CI = 1.85-12.91，p = 0.001）。此外，CC 基因型与发病年龄较早显著相关（p = 0.001，风险比[HR] = 2.09，95%CI = 1.38-3.18）。我们的数据表明，IDE 的多态性与汉族人群中阿尔茨海默病的易感性有关。
