Annu Int Conf IEEE Eng Med Biol Soc. 2021 Nov;2021:3586-3591. doi: 10.1109/EMBC46164.2021.9630174.
Alzheimer's disease (AD) is a devastating neurological disorder primarily affecting the elderly. An estimated 6.2 million Americans age 65 and older are suffering from Alzheimer's dementia today. Brain magnetic resonance imaging (MRI) is widely used for the clinical diagnosis of AD. In the meanwhile, medical researchers have identified 40 risk locus using single-nucleotide polymorphisms (SNPs) information from Genome-wide association study (GWAS) in the past decades. However, existing studies usually treat MRI and GWAS separately. For instance, convolutional neural networks are often trained using MRI for AD diagnosis. GWAS and SNPs are frequently used to identify genomic traits. In this study, we propose a multi-modal AD diagnosis neural network that uses both MRIs and SNPs. The proposed method demonstrates a novel way to use GWAS findings by directly including SNPs in predictive models. We test the proposed methods on the Alzheimer's Disease Neuroimaging Initiative dataset. The evaluation results show that the proposed method improves the model performance on AD diagnosis and achieves 93.5% AUC and 96.1% AP, respectively, when patients have both MRI and SNP data. We believe this work brings exciting new insights to GWAS applications and sheds light on future research directions.
阿尔茨海默病(AD)是一种严重的神经退行性疾病,主要影响老年人。据估计,目前有 620 万 65 岁及以上的美国老年人患有阿尔茨海默病痴呆症。脑磁共振成像(MRI)广泛应用于 AD 的临床诊断。与此同时,医学研究人员在过去几十年中利用全基因组关联研究(GWAS)的单核苷酸多态性(SNP)信息确定了 40 个风险基因座。然而,现有研究通常将 MRI 和 GWAS 分开处理。例如,卷积神经网络通常使用 MRI 进行 AD 诊断。GWAS 和 SNPs 常用于识别基因组特征。在这项研究中,我们提出了一种使用 MRI 和 SNPs 的多模态 AD 诊断神经网络。该方法通过直接将 SNPs 纳入预测模型,为利用 GWAS 研究结果提供了一种新方法。我们在阿尔茨海默病神经影像学倡议数据集上测试了所提出的方法。评估结果表明,当患者同时具有 MRI 和 SNP 数据时,所提出的方法可以提高模型在 AD 诊断方面的性能,分别达到 93.5%的 AUC 和 96.1%的 AP。我们相信这项工作为 GWAS 的应用带来了令人兴奋的新见解,并为未来的研究方向提供了启示。