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对照个体的年龄如何阻碍亨廷顿舞蹈症靶基因的识别?

How does the age of control individuals hinder the identification of target genes for Huntington's disease?

作者信息

Dias Pinto João Rafael, Faustinoni Neto Benedito, Sanches Fernandes Joyce Macedo, Kerkis Irina, Araldi Rodrigo Pinheiro

机构信息

BioDecision Analytics Ltda., São Paulo, Brazil.

Post-Graduation Program in Structural and Functional Biology, Paulista School of Medicine (EPM), Federal University of São Paulo (UNIFESP), São Paulo, Brazil.

出版信息

Front Genet. 2024 Jun 20;15:1377237. doi: 10.3389/fgene.2024.1377237. eCollection 2024.

Abstract

Several studies have compared the transcriptome across various brain regions in Huntington's disease (HD) gene-positive and neurologically normal individuals to identify potential differentially expressed genes (DEGs) that could be pharmaceutical or prognostic targets for HD. Despite adhering to technical recommendations for optimal RNA-Seq analysis, none of the genes identified as upregulated in these studies have yet demonstrated success as prognostic or therapeutic targets for HD. Earlier studies included samples from neurologically normal individuals older than the HD gene-positive group. Considering the gradual transcriptional changes induced by aging in the brain, we posited that utilizing samples from older controls could result in the misidentification of DEGs. To validate our hypothesis, we reanalyzed 146 samples from this study, accessible on the SRA database, and employed Propensity Score Matching (PSM) to create a "virtual" control group with a statistically comparable age distribution to the HD gene-positive group. Our study underscores the adverse impact of using neurologically normal individuals over 75 as controls in gene differential expression analysis, resulting in false positives and negatives. We conclusively demonstrate that using such old controls leads to the misidentification of DEGs, detrimentally affecting the discovery of potential pharmaceutical and prognostic markers. This underscores the pivotal role of considering the age of control samples in RNA-Seq analysis and emphasizes its inclusion in evaluating best practices for such investigations. Although our primary focus is HD, our findings suggest that judiciously selecting age-appropriate control samples can significantly improve best practices in differential expression analysis.

摘要

多项研究比较了亨廷顿舞蹈病(HD)基因阳性个体和神经功能正常个体不同脑区的转录组,以确定可能成为HD药物或预后靶点的潜在差异表达基因(DEG)。尽管遵循了优化RNA测序分析的技术建议,但这些研究中鉴定为上调的基因均未成功成为HD的预后或治疗靶点。早期研究纳入了年龄大于HD基因阳性组的神经功能正常个体的样本。考虑到大脑衰老引起的逐渐转录变化,我们推测使用老年对照样本可能会导致DEG的错误识别。为了验证我们的假设,我们重新分析了该研究中可在SRA数据库获取的146个样本,并采用倾向得分匹配(PSM)创建了一个年龄分布在统计学上与HD基因阳性组相当的“虚拟”对照组。我们的研究强调了在基因差异表达分析中使用75岁以上神经功能正常个体作为对照的不利影响,会导致假阳性和假阴性。我们最终证明,使用此类老年对照会导致DEG的错误识别,对潜在药物和预后标志物的发现产生不利影响。这突出了在RNA测序分析中考虑对照样本年龄的关键作用,并强调将其纳入此类研究最佳实践的评估中。虽然我们的主要重点是HD,但我们的研究结果表明,明智地选择年龄合适的对照样本可以显著改善差异表达分析的最佳实践。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/66b9/11228582/f72255d30074/fgene-15-1377237-g001.jpg

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