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• W2111718981 abstract "Expression levels of many genes have substantial heritability. We therefore aimed to characterize the genetics of brain gene expression. We hypothesize that it may be possible to extend an initial functional approach based on SNP/brain transcript association to detection of genetic associations with neurodegenerative diseases, such as Alzheimer's disease (AD), and related endophenotypes that would otherwise go undetected. We performed an eGWAS using cerebellar RNA from 197 ADs and 177 non-ADs. Whole transcriptome expression levels for 24,526 transcripts were measured using Illumina-wgDASL chips and genotypes for 313,330 SNPs were obtained using Illumina-Hap300 arrays. Probes with a known SNP within their sequence were eliminated. PLINK was used to perform multivariable linear regression analysis to detect cis-SNP/transcript level associations in ADs and non-ADs, both separately and jointly. Regression analyses were corrected for technical variables, including plate and RIN, and biological variables (age, gender, ApoE). Cerebellar cis-SNP/transcript associations, significant after Bonferroni-adjustment, were also tested in the temporal cortex of 198 ADs and 193 non-ADs. Cerebellar gene expression was detectable for ∼69% of all transcripts. After accounting for technical variance, cis-SNPs explained > 5% (5-85%) of the variance of >1,600 (∼11%) transcripts. Of > 440,000 cis-SNP/transcript tests and after correction for multiple testing, we found an excess of significant associations both in AD-only and non-AD-only analyses. There was a substantial number of cis-SNP/transcript associations that were significant in both ADs and non-ADs. Importantly, the direction and magnitude of these associations were similar in these groups. Of these top cerebellar cis-SNPs with replicable associations, many were detectable in the temporal cortex; showed study-wide significance, and had similar direction and magnitude as the cerebellar associations. Genetic factors influence brain gene expression for many genes. These genetic influences are replicable across disease pathologies and tissue regions. eGWAS may be an excellent approach to identify candidate functional genetic variants implicated in AD risk and its endophenotypes. We are in the process of testing the top cis-SNPs for association with AD in published studies and our series. Evaluation of these cis-SNPs for their influence on endophenotypes of AD, including plasma amyloid ß is also underway." @default.
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• W2111718981 date "2011-07-01" @default.
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• W2111718981 title "P1-229: Genome-Wide Association Study of Brain Gene Expression Levels (eGWAS)" @default.
• W2111718981 doi "https://doi.org/10.1016/j.jalz.2011.05.509" @default.
• W2111718981 hasPublicationYear "2011" @default.
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