مورد إلكتروني
Genetic studies of quantitative MCI and AD phenotypes in ADNI: Progress, opportunities, and plans.
| العنوان: | Genetic studies of quantitative MCI and AD phenotypes in ADNI: Progress, opportunities, and plans. |
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| المؤلفون: | Saykin, Andrew J |
| المصدر: | Alzheimer's & dementia : the journal of the Alzheimer's Association; vol 11, iss 7, 792-814; 1552-5260 |
| بيانات النشر: | eScholarship, University of California 2015-07-01 |
| تفاصيل مُضافة: | Saykin, Andrew J Shen, Li Yao, Xiaohui Kim, Sungeun Nho, Kwangsik Risacher, Shannon L Ramanan, Vijay K Foroud, Tatiana M Faber, Kelley M Sarwar, Nadeem Munsie, Leanne M Hu, Xiaolan Soares, Holly D Potkin, Steven G Thompson, Paul M Kauwe, John SK Kaddurah-Daouk, Rima Green, Robert C Toga, Arthur W Weiner, Michael W Alzheimer's Disease Neuroimaging Initiative |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | IntroductionGenetic data from the Alzheimer's Disease Neuroimaging Initiative (ADNI) have been crucial in advancing the understanding of Alzheimer's disease (AD) pathophysiology. Here, we provide an update on sample collection, scientific progress and opportunities, conceptual issues, and future plans.MethodsLymphoblastoid cell lines and DNA and RNA samples from blood have been collected and banked, and data and biosamples have been widely disseminated. To date, APOE genotyping, genome-wide association study (GWAS), and whole exome and whole genome sequencing data have been obtained and disseminated.ResultsADNI genetic data have been downloaded thousands of times, and >300 publications have resulted, including reports of large-scale GWAS by consortia to which ADNI contributed. Many of the first applications of quantitative endophenotype association studies used ADNI data, including some of the earliest GWAS and pathway-based studies of biospecimen and imaging biomarkers, as well as memory and other clinical/cognitive variables. Other contributions include some of the first whole exome and whole genome sequencing data sets and reports in healthy controls, mild cognitive impairment, and AD.DiscussionNumerous genetic susceptibility and protective markers for AD and disease biomarkers have been identified and replicated using ADNI data and have heavily implicated immune, mitochondrial, cell cycle/fate, and other biological processes. Early sequencing studies suggest that rare and structural variants are likely to account for significant additional phenotypic variation. Longitudinal analyses of transcriptomic, proteomic, metabolomic, and epigenomic changes will also further elucidate dynamic processes underlying preclinical and prodromal stages of disease. Integration of this unique collection of multiomics data within a systems biology framework will help to separate truly informative markers of early disease mechanisms and potential novel therapeutic targets from th |
| مصطلحات الفهرس: | Alzheimer's Disease Neuroimaging Initiative, Humans, Alzheimer Disease, Disease Progression, Apolipoproteins E, Membrane Transport Proteins, Databases, Bibliographic, Genetic Association Studies, Neuroimaging, Biomarkers, Cognitive Dysfunction, Mitochondrial Precursor Protein Import Complex Proteins, Alzheimer's disease, Bioethical issues, Cerebrospinal fluid, Cognition, Copy number variation, DNA, Genome-wide association studies, Magnetic resonance imaging, Memory, Mild cognitive impairment, Next generation sequencing, Positron emission tomography, Precision medicine, RNA, Alzheimer's Disease, Neurodegenerative, Human Genome, Acquired Cognitive Impairment, Neurosciences, Biotechnology, Genetics, Aging, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Brain Disorders, Prevention, 2.6 Resources and infrastructure (aetiology), 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Detection, screening and diagnosis, Neurological, Clinical Sciences, Geriatrics, article |
| URL: | |
| الإتاحة: | Open access content. Open access content public |
| ملاحظة: | application/pdf Alzheimer's & dementia : the journal of the Alzheimer's Association vol 11, iss 7, 792-814 1552-5260 |
| أرقام أخرى: | CDLER oai:escholarship.org:ark:/13030/qt9b9739x6 qt9b9739x6 https://escholarship.org/uc/item/9b9739x6Test https://escholarship.orgTest/ 1377973713 |
| المصدر المساهم: | UC MASS DIGITIZATION From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1377973713 |
| قاعدة البيانات: | OAIster |
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