Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
Department of Birth Health and Heredity, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou 545000, China.
Genomics. 2020 May;112(3):2426-2432. doi: 10.1016/j.ygeno.2020.01.015. Epub 2020 Jan 23.
Alzheimer's disease (AD) is a chronic neurodegenerative disease. The genetic risk factors of AD remain better understood. Using previously published dataset of common single nucleotide polymorphisms (SNPs), we studied the association between the minor allele content (MAC) in an individual and AD. We found that AD patients have higher average MAC values than matched controls. We identified a risk prediction model that could predict 2.19% of AD cases. We also identified 49 genes whose expression levels correlated with both MAC and AD. By pathway and process enrichment analyses, these genes were found in pathways or processes closely related to AD. Our study suggests that AD may be linked with too many genetic variations over a threshold. The method of correlations with both MAC and traits appears to be effective in high efficiency identification of target genes for complex traits.
阿尔茨海默病（AD）是一种慢性神经退行性疾病。AD 的遗传风险因素仍较为明确。利用先前发表的常见单核苷酸多态性（SNP）数据集，我们研究了个体中次要等位基因含量（MAC）与 AD 之间的关联。我们发现 AD 患者的平均 MAC 值高于匹配对照组。我们确定了一个可以预测 2.19%AD 病例的风险预测模型。我们还发现了 49 个基因，其表达水平与 MAC 和 AD 都相关。通过途径和过程富集分析，这些基因存在于与 AD 密切相关的途径或过程中。我们的研究表明，AD 可能与超过阈值的多种遗传变异有关。同时与 MAC 和性状相关的方法似乎可以有效地识别复杂性状的目标基因。
