Moore Anni, Ritchie Marylyn D
Genomics and Computational Biology Group, University of Pennsylvania, Philadelphia, PA.
Institute of Biomedical Informatics, University of Pennsylvania, Philadelphia, PA.
AMIA Jt Summits Transl Sci Proc. 2024 May 31;2024:623-631. eCollection 2024.
Alzheimer's disease (AD) is the most prevalent neurodegenerative disease worldwide, with one in nine people over the age of 65 living with the disease in 2023. In this study, we used a phenome wide association study (PheWAS) approach to identify cross-phenotype between previously identified genetic associations for AD and electronic health record (EHR) diagnoses from the UK Biobank (UKBB) (n=361,194 of European ancestry) and the eMERGE Network (n=105,108 of diverse ancestry). Based on 497 previously identified AD-associated variants from the Alzheimer's Disease Variant Portal (ADVP), we found significant associations primarily in immune and cardiac related diseases in our PheWAS. Replicating variants have widespread impacts on immune genes in diverse tissue types. This study demonstrates the potential of using the PheWAS strategy to improve our understanding of AD progression as well as identify potential drug repurposing opportunities for new treatment and disease prevention strategies.
阿尔茨海默病(AD)是全球最常见的神经退行性疾病,2023年每九名65岁以上的人中就有一人患有这种疾病。在本研究中,我们使用了全表型关联研究(PheWAS)方法,以确定先前确定的AD基因关联与来自英国生物银行(UKBB)(欧洲血统361194人)和电子医疗记录与基因组学网络(eMERGE Network)(不同血统105108人)的电子健康记录(EHR)诊断之间的交叉表型。基于从阿尔茨海默病变异体数据库(ADVP)中先前确定的497个与AD相关的变异体,我们在全表型关联研究中发现主要与免疫和心脏相关疾病存在显著关联。复制变异体对不同组织类型的免疫基因有广泛影响。本研究证明了使用全表型关联研究策略来增进我们对AD进展的理解以及确定新治疗和疾病预防策略的潜在药物再利用机会的潜力。