Summary Whole blood transcriptome analysis is a valuable approach in medical research, primarily due to the ease of sample collection and the richness of the information obtained. Since the expression profile of individual genes in the analysis is influenced by medical traits and demographic attributes such as age and gender, there has been a growing demand for a comprehensive database for blood transcriptome analysis. Here, we performed whole blood RNA sequencing (RNA-seq) analysis on 576 participants stratified by age (20-30s and 60-70s) and gender from cohorts of the Tohoku Medical Megabank (TMM). A part of female segment included pregnant women. We did not exclude the globin gene family in our RNA-seq study, which enabled us to identify instances of hereditary persistence of fetal hemoglobin based on the HBG1 and HBG2 expression information. Comparing stratified populations allowed us to identify groups of genes associated with age-related changes and gender differences. We also found that the immune response status, particularly measured by neutrophil-to-lymphocyte ratio (NLR), strongly influences the diversity of individual gene expression profiles in whole blood transcriptome analysis. This stratification has resulted in a dataset that will be highly beneficial for future whole blood transcriptome analysis in the Japanese population.

中文翻译：

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日本个体年龄和性别特异性基因表达谱的全血转录组分析

摘要 全血转录组分析是医学研究中的一种有价值的方法，主要是因为样品采集方便且获得的信息丰富。由于分析中单个基因的表达谱受到年龄和性别等医学特征和人口统计属性的影响，因此对血液转录组分析的综合数据库的需求不断增长。在这里，我们对来自东北医疗大银行 (TMM) 队列的 576 名参与者进行了全血 RNA 测序 (RNA-seq) 分析，这些参与者按年龄（20-30 岁和 60-70 岁）和性别进行分层。一部分女性群体包括孕妇。我们在 RNA-seq 研究中没有排除珠蛋白基因家族，这使我们能够根据 HBG1 和 HBG2 表达信息识别胎儿血红蛋白遗传持续性的实例。比较分层人群使我们能够识别与年龄相关变化和性别差异相关的基因组。我们还发现，免疫反应状态，特别是通过中性粒细胞与淋巴细胞比率（NLR）测量，强烈影响全血转录组分析中个体基因表达谱的多样性。这种分层产生的数据集对于未来日本人群的全血转录组分析非常有益。