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gene expression profiles as well as neuroimaging and cerebrospinal fluid (CSF) endophenotype analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified and replicated five genes (<jats:italic>CREB5<\/jats:italic>, <jats:italic>CD46<\/jats:italic>, <jats:italic>TMBIM6<\/jats:italic>, <jats:italic>IRAK3<\/jats:italic>, and <jats:italic>RPAIN<\/jats:italic>) as significantly dysregulated in LOAD. The most significantly altered gene, <jats:italic>CREB5<\/jats:italic>, was also associated with brain atrophy and increased amyloid beta (A\u03b2) accumulation, especially in the entorhinal cortex region. <jats:italic>cis\u2010<\/jats:italic>expression quantitative trait loci mapping analysis of <jats:italic>CREB5<\/jats:italic> detected five significant associations (<jats:italic>P<\/jats:italic> &lt; 5 \u00d7 10<jats:sup>\u22128<\/jats:sup>), where rs56388170 (most significant) was also significantly associated with global cortical A\u03b2 deposition measured by [<jats:sup>18<\/jats:sup>F]Florbetapir positron emission tomography and CSF A\u03b2<jats:sub>1\u201042<\/jats:sub>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>RNA from peripheral blood indicated a differential gene expression pattern in LOAD. Genes identified have been implicated in biological processes relevant to Alzheimer's disease. <jats:italic>CREB<\/jats:italic>, in particular, plays a key role in nervous system development, cell survival, plasticity, and learning and memory.<\/jats:p><\/jats:sec>","DOI":"10.1002\/alz.12092","type":"journal-article","created":{"date-parts":[[2020,8,5]],"date-time":"2020-08-05T03:47:47Z","timestamp":1596599267000},"page":"1213-1223","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Genome\u2010wide transcriptome analysis identifies novel dysregulated genes implicated in Alzheimer's pathology"],"prefix":"10.1002","volume":"16","author":[{"given":"Kwangsik","family":"Nho","sequence":"first","affiliation":[{"name":"Center for Neuroimaging Department of Radiology and Imaging Sciences Indiana University School of Medicine  Indianapolis Indiana"},{"name":"Center for Computational Biology and Bioinformatics Indiana 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