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• W2897359206 abstract "Neuroimaging data can be utilized along with genetic information to improve our ability to detect Alzheimer's disease (AD) and characterize its pathogenesis. Though synonymous codons synthesize the same amino acid sequence, synonymous variants have been implicated in a number of diseases including neurological, cancer, heart, and more specifically AD. A growing body of evidence suggests variation among synonymous codons leading to codon bias can impact protein abundance, conformation, and function. One form of codon bias occurs when a synonymous codon is represented more often than another leading to biases in terms of codon frequency throughout the genome. Other codon biases can be in the form of optimal and non-optimal codons, which have stronger and weaker codon-anticodon interactions, respectively. Furthermore, codon bias can present itself within a gene, in other words the 5’ and 3’ ends of genes can be biased with different synonymous codons. Although rare variants within specific pathways have been shown to be associated with AD, it remains unclear how pathway specific rare variants that affect codon bias are implicated in the disease. Data (whole-genome sequencing and MRI imaging) used in this study was obtained for 750 non-Hispanic Caucasian participants from the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort. Rare variants were annotated based on specific types of codon bias (i.e., frequency or optimality) and binned into pathways using BioBin. An association test between the pathways and an AD-related neuroimaging phenotype (i.e., entorhinal cortex thickness) was performed using SKAT-O. Rare variants that affect codon optimality towards the 3’ ends of genes in the p53 signaling pathway were associated with the imaging phenotype (FDR < 0.05). This association was not observed when including synonymous variants that affect optimality or the frequency across the full length of the gene. While previous work has pointed to a connection between p53 and AD, this study is the first to suggest they are linked via rare variants in synonymous codons. Moreover, codon bias that affects certain regions of genes may play a role in the pathogenesis of AD and can be used to improve statistical power when performing pathway-based association tests." @default.
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• W2897359206 date "2018-07-01" @default.
• W2897359206 modified "2023-10-16" @default.
• W2897359206 title "P4‐238: PATHWAY LEVEL CODON BIAS AMONG SYNONYMOUS RARE VARIANTS IS ASSOCIATED WITH ALZHEIMER'S DISEASE IMAGING BIOMARKER" @default.
• W2897359206 doi "https://doi.org/10.1016/j.jalz.2018.07.059" @default.
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