Alemany Silvia, Bosch Rosa, Soler Artigas María, Cabana-Domínguez Judit, Vilar-Ribó Laura, Llonga Natalia, Arribas Lorena, Carabí-Gassol Pau, Macias-Chimborazo Valeria, Zubizarreta-Arruti Uxue, Pagerols Mireia, Prat Raquel, Pagespetit Èlia, Puigbó Julia, Español-Martín Gemma, Ramos-Quiroga J Antoni, Casas Miquel, Ribasés Marta
Psychiatric Genetics Unit, Group of Psychiatry Mental Health and Addiction, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain; Hospital Universitari Vall d'Hebron, Barcelona, Spain; Biomedical Network Research Centre on Mental Health (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain.
Biomedical Network Research Centre on Mental Health (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain; Divisió de Salut Mental, Althaia Xarxa Assistencial Universitariade Manresa, Manresa, Barcelona, Spain; SJD MIND Schools Program, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain.
J Am Acad Child Adolesc Psychiatry. 2025 Jun 19. doi: 10.1016/j.jaac.2025.06.012.
We examined the relationships between polygenic risk scores (PRS) for psychiatric disorders and behavioral and emotional problems. In addition, we explored whether these associations differed by sex and conducted mutually adjusted models to elucidate whether different PRS independently contributed to the same outcome.
Participants included 4,709 individuals 5 to 18 years of age from the Spanish population-based INSchool cohort (mean age = 10.0 years; SD = 3.0, 45% female). PRS for attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder, depression, schizophrenia, and anxiety were computed using PRScs and PLINK. Behavioral and emotional problems were assessed using the Child Behavior Checklist (CBCL), the Teacher's Report Form (TRF), the Youth Self-Report (YSR), and the Strengths and Difficulties Questionnaire (SDQ) reported by parents, teachers, and participants. Associations between PRS and behavioral and emotional problems were examined using linear mixed-effects models.
Of a total of 54 traits, 35 showed significant associations that survived multiple testing correction (p < 1.54E-04) with at least one PRS for ADHD, ASD, and depression. PRS-ADHD showed the strongest associations with a wide range of behavioral and emotional problems reported by all 3 informants, which was shown to be largely independent of the effects of PRS-ASD and depression. Sex-stratified results revealed certain sex-specific associations, with the PRS-Schizophrenia showing stronger effects among boys compared to girls in parent-reported outcomes.
Polygenic risk for ADHD and, to a lesser extent, ASD and depression contributed to the expression of behavior and emotional problems among schoolchildren in a transdiagnostic manner, with both broad and specific measures of dimensional psychopathology.
DIVERSITY & INCLUSION STATEMENT: We worked to ensure sex and gender balance in the recruitment of human participants. We worked to ensure that the study questionnaires were prepared in an inclusive way. We worked to ensure race, ethnic, and/or other types of diversity in the recruitment of human participants. We actively worked to promote sex and gender balance in our author group. The author list of this paper includes contributors from the location and/or community where the research was conducted who participated in the data collection, design, analysis, and/or interpretation of the work. We actively worked to promote inclusion of historically underrepresented racial and/or ethnic groups in science in our author group. One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented sexual and/or gender groups in science.
我们研究了精神疾病的多基因风险评分（PRS）与行为和情绪问题之间的关系。此外，我们探讨了这些关联是否因性别而异，并进行了相互调整的模型分析，以阐明不同的PRS是否独立地导致相同的结果。
参与者包括来自西班牙基于人群的INSchool队列的4709名5至18岁的个体（平均年龄 = 10.0岁；标准差 = 3.0，45%为女性）。使用PRScs和PLINK计算注意力缺陷多动障碍（ADHD）、自闭症谱系障碍（ASD）、双相情感障碍、抑郁症、精神分裂症和焦虑症的PRS。使用父母、教师和参与者报告的儿童行为检查表（CBCL）、教师报告表（TRF）、青少年自我报告（YSR）和优势与困难问卷（SDQ）评估行为和情绪问题。使用线性混合效应模型检查PRS与行为和情绪问题之间的关联。
在总共54个特征中，35个显示出显著关联，在经过多重检验校正（p < 1.54E - 04）后，与ADHD、ASD和抑郁症的至少一种PRS相关。PRS - ADHD与所有3名报告者报告的广泛行为和情绪问题显示出最强的关联，这在很大程度上独立于PRS - ASD和抑郁症的影响。按性别分层的结果揭示了某些特定性别的关联，在父母报告的结果中，PRS - 精神分裂症在男孩中比在女孩中显示出更强的影响。
ADHD以及程度较轻的ASD和抑郁症的多基因风险以跨诊断的方式导致学童行为和情绪问题的表达，涉及维度精神病理学的广泛和特定测量。
我们努力确保在招募人类参与者时实现性别平衡。我们努力确保研究问卷以包容的方式编制。我们努力确保在招募人类参与者时实现种族、民族和/或其他类型的多样性。我们积极努力在我们的作者群体中促进性别平衡。本文的作者名单包括来自研究开展地点和/或社区的贡献者，他们参与了数据收集、设计、分析和/或工作的解释。我们积极努力在我们的作者群体中促进历史上代表性不足的种族和/或民族群体参与科学。本文的一位或多位作者自我认同为科学领域历史上代表性不足的一个或多个性取向和/或性别群体的成员。
