School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.
Social, Genetic and Developmental Psychiatry Centre, King's College London, London, UK.
Nat Hum Behav. 2023 Apr;7(4):642-656. doi: 10.1038/s41562-023-01530-y. Epub 2023 Feb 20.
A systematic understanding of the aetiology of neurodevelopmental disorders (NDDs) and their co-occurrence with other conditions during childhood and adolescence remains incomplete. In the current meta-analysis, we synthesized the literature on (1) the contribution of genetic and environmental factors to NDDs, (2) the genetic and environmental overlap between different NDDs, and (3) the co-occurrence between NDDs and disruptive, impulse control and conduct disorders (DICCs). Searches were conducted across three platforms: Web of Science, Ovid Medline and Ovid Embase. Studies were included only if 75% or more of the sample consisted of children and/or adolescents and the studies had measured the aetiology of NDDs and DICCs using single-generation family designs or genomic methods. Studies that had selected participants on the basis of unrelated diagnoses or injuries were excluded. We performed multilevel, random-effects meta-analyses on 296 independent studies, including over four million (partly overlapping) individuals. We further explored developmental trajectories and the moderating roles of gender, measurement, geography and ancestry. We found all NDDs to be substantially heritable (family-based heritability, 0.66 (s.e. = 0.03); SNP heritability, 0.19 (s.e. = 0.03)). Meta-analytic genetic correlations between NDDs were moderate (grand family-based genetic correlation, 0.36 (s.e. = 0.12); grand SNP-based genetic correlation, 0.39 (s.e. = 0.19)) but differed substantially between pairs of disorders. The genetic overlap between NDDs and DICCs was strong (grand family-based genetic correlation, 0.62 (s.e. = 0.20)). While our work provides evidence to inform and potentially guide clinical and educational diagnostic procedures and practice, it also highlights the imbalance in the research effort that has characterized developmental genetics research.
目前对神经发育障碍(NDD)病因及其在儿童和青少年期与其他疾病共病的系统认识仍不完整。在本荟萃分析中,我们综合了关于(1)遗传和环境因素对 NDD 的贡献,(2)不同 NDD 之间遗传和环境的重叠,以及(3)NDD 与破坏性行为、冲动控制和品行障碍(DICCs)共病的文献。我们在三个平台上进行了检索:Web of Science、Ovid Medline 和 Ovid Embase。仅纳入 75%或以上的样本由儿童和/或青少年组成且使用单代家族设计或基因组方法测量 NDD 和 DICCs 病因的研究。排除了基于无关诊断或损伤选择参与者的研究。我们对 296 项独立研究进行了多层次、随机效应荟萃分析,共涉及超过 400 万人(部分重叠)。我们进一步探讨了发展轨迹以及性别、测量、地理位置和祖源的调节作用。我们发现所有 NDD 都具有相当大的遗传性(基于家族的遗传性,0.66(s.e. = 0.03);SNP 遗传性,0.19(s.e. = 0.03))。NDD 之间的分析遗传相关性为中度(全家族遗传相关性,0.36(s.e. = 0.12);全 SNP 遗传相关性,0.39(s.e. = 0.19)),但不同疾病之间的相关性差异较大。NDD 和 DICCs 之间的遗传重叠很强(全家族遗传相关性,0.62(s.e. = 0.20))。虽然我们的工作为信息提供了证据,并可能为临床和教育诊断程序和实践提供指导,但它也突出了发育遗传学研究的不平衡。