Gene copy number variation in pediatric mental illness in a general population

We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health, and cognitive biomarkers in a community sample of 7,100 unrelated European, and East Asian children and youth (Spit for Science). Diagnoses of mental health disorders were found in 17.5% of participants and 27.6% scored in the highest 10% on either or both ADHD and OCD trait measures. Clinically relevant CNVs were present in 3.9% of participants and were associated with elevated scores on a continuous measure of ADHD (p=5.0×10-3), on a cognitive biomarker of mental health (response inhibition (p=1.0×10-2)), and on prevalence of mental disorders (p=1.9×10-6, odds ratio: 3.09). With a rise of mental illness, our data establishes a baseline for delineating genetic contributors in paediatric-onset conditions.EGA study EGAS00001006659

本研究针对7100名无亲缘关系的欧洲裔与东亚裔儿童及青少年社区样本（Spit for Science项目），分析了基因拷贝数变异（copy number variation, CNV）与心理健康/神经发育特征及诊断、身体健康状况及认知生物标志物之间的关联。结果显示，17.5%的受试者存在精神障碍诊断，另有27.6%的受试者在注意缺陷多动障碍（ADHD）与强迫障碍（OCD）特征量表中至少一项得分处于前10%区间。3.9%的受试者携带具有临床意义的CNV，该类变异与ADHD持续评分升高（p=5.0×10⁻³）、心理健康相关认知生物标志物（反应抑制能力，p=1.0×10⁻²）得分升高，以及精神障碍患病率升高（p=1.9×10⁻⁶，优势比：3.09）显著相关。随着精神疾病发病率持续上升，本研究数据为阐明儿童起病精神疾病的遗传致病因素提供了基准参考。EGA研究EGAS00001006659