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• W2980602933 abstract "Alzheimer disease (AD) is a complex disorder with diversity in phenotype, onset and progression of clinical symptoms. Ultimately, AD is characterized by the deposition of amyloid beta (Aβ) and phosphorylated tau protein aggregates in the brain. We hypothesize that different clinical AD manifestations may result from common altered pathways relevant to the development of pathology. In our effort to identify novel players to the missing heritability of AD, we have performed genomic and transcriptomic integrative analysis. We leveraged genomic data (https://doi.org/10.3389/fnins.2018.00209) and transcriptomic data (doi:10.1186/s13073-018-0551-4) from autosomal dominant AD (ADAD), early onset AD (EOAD), late onset AD (LOAD) patients and healthy controls (HC), which was available in our laboratory. Transcriptomic data was generated using parietal tissue from brain donors from the Knight-ADRC at WUSM. After QC, 103 samples remained for analysis: 16 HC, 19 ADAD, 13 EOAD and 55 LOAD. Statistical analyses were performed with DESeq2. Through transcriptome-wide PCA, we can infer that AD and HC present largely different transcriptomic profiles (Figure 1a). Differential gene expression analysis identified AGFG2 as a significantly differentiated gene across AD etiologies and vs HC (Figure 1b). It was nominally significant in gene-based analysis in the familial cohort (CMC P=0.012) and several variants within this gene segregated according to disease status. AGFG2 is a member of the HIV-1 Rev binding protein family and plays a role in the Rev export pathway (https://doi.org/10.1038/s41593-018-0216-z). In the brain, it is primarily expressed in astrocytes. Recent studies using siRNA in HEK293 cells stably over-expressing a mCherry-APP695wt-YFP found AGFG2 among the top eight genes with genome-wide significance, suggesting that these genes could be involved in the AD process via the regulation of APP metabolism (https://doi.org/10.1007/s00401-016-1652-z). The ADSP consortia recently published new rare variants in STAG3 associated with AD; interestingly, the associated variant is an eQTL for AGFG2 (https://doi.org/10.1038/s41380-018-0112-7)." @default.
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• W2980602933 date "2019-07-01" @default.
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• W2980602933 title "P4-106: INTEGRATIVE ANALYSIS POINTS TO AGFG2 AS A NOVEL PLAYER IN THE PATHOLOGY OF ALZHEIMER DISEASE" @default.
• W2980602933 doi "https://doi.org/10.1016/j.jalz.2019.06.3767" @default.
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