The U.S. National Institute of Mental Health (NIMH) introduced the research domain criteria (RDoC) initiative to promote the integration of information across multiple units of analysis (i.e., brain circuits, physiology, behavior, self-reports) to better understand the basic dimensions of behavior and cognitive functioning underlying normal and abnormal mental conditions. Along those lines, this study examined the association between peripheral blood gene expression levels and emotional and behavioral problems in school-age children. Children were chosen from two age- and sex-matched groups: those with or without parental reports of any prior or current psychiatric diagnosis. RNA-sequencing was performed on whole blood from 96 probands aged 6–12 years who were medication-free at the time of assessment. Module eigengenes were derived using weighted gene co-expression network analysis (WGCNA). Associations were tested between module eigengene expression levels and eight syndrome scales from parent ratings on the Child Behavior Checklist (CBCL). Nine out of the 36 modules were significantly associated with at least one syndrome scale measured by the CBCL (i.e., aggression, social problems, attention problems, and/or thought problems) after accounting for covariates and correcting for multiple testing. Our study demonstrates that variation in peripheral blood gene expression relates to emotional and behavioral profiles in children. If replicated and validated, our results may help in identifying problem or at-risk behavior in pediatric populations, and in elucidating the biological pathways that modulate complex human behavior.

美国国家心理健康研究所（NIMH）推出研究领域标准（RDoC）倡议，促进跨多个分析单元（即脑回路、生理学、行为、自我报告）的信息整合，以更好地理解基本维度正常和异常精神状况下的行为和认知功能。沿着这些思路，这项研究检查了学龄儿童外周血基因表达水平与情绪和行为问题之间的关联。儿童是从两个年龄和性别匹配的群体中选出的：有或没有父母报告任何先前或当前的精神病诊断的儿童。对 96 名 6-12 岁先证者的全血进行了 RNA 测序，这些先证者在评估时未接受药物治疗。使用加权基因共表达网络分析（ WGCNA ）导出模块特征基因。测试了模块特征基因表达水平与儿童行为检查表（CBCL）上父母评分的八种综合症量表之间的关联。在考虑协变量并校正多重测试后，36 个模块中的 9 个与 CBCL 测量的至少一种综合症量表（即攻击性、社交问题、注意力问题和/或思维问题）显着相关。我们的研究表明，外周血基因表达的变化与儿童的情绪和行为特征有关。如果得到复制和验证，我们的结果可能有助于识别儿科人群的问题或高危行为，并阐明调节复杂人类行为的生物学途径。