Background: Copy number variations (CNVs) play an important role in the genetic etiology of various neurological disorders, including Alzheimer’s disease (AD). Type 2 diabetes mellitus (T2DM) and major depressive disorder (MDD) were shown to have share mechanisms and signaling pathways with AD.

Objective: We aimed to assess CNVs regions that may harbor genes contributing to AD, T2DM, and MDD in 67 Saudi familial and sporadic AD patients, with no alterations in the known genes of AD and genotyped previously for APOE.

中文翻译：

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阿尔茨海默病及其相关疾病中独特和反复拷贝数变异的综合分析

背景：拷贝数变异 (CNV) 在包括阿尔茨海默病 (AD) 在内的各种神经系统疾病的遗传病因学中发挥着重要作用。2 型糖尿病 (T2DM) 和重度抑郁症 (MDD) 被证明与 AD 具有共享机制和信号通路。

目的：我们的目的是评估 67 名沙特家族性和散发性 AD 患者中可能含有导致 AD、T2DM 和 MDD 的基因的 CNV 区域，而 AD 的已知基因没有改变，并且之前对 APOE 进行了基因分型。