Hegemann Laura, Eilertsen Espen, Hagen Pettersen Johanne, Corfield Elizabeth C, Cheesman Rosa, Frach Leonard, Daae Bjørndal Ludvig, Ask Helga, St Pourcain Beate, Havdahl Alexandra, Hannigan Laurie J
Department of Psychology, University of Oslo, Oslo, Norway.
Research Department, Lovisenberg Diaconal Hospital, Oslo, Norway.
J Child Psychol Psychiatry. 2025 Jul;66(7):1053-1064. doi: 10.1111/jcpp.14122. Epub 2025 Jan 30.
Neurodevelopmental conditions are highly heritable. Recent studies have shown that genomic heritability estimates can be confounded by genetic effects mediated via the environment (indirect genetic effects). However, the relative importance of direct versus indirect genetic effects on early variability in traits related to neurodevelopmental conditions is unknown.
The sample included up to 24,692 parent-offspring trios from the Norwegian MoBa cohort. We use Trio-GCTA to estimate latent direct and indirect genetic effects on mother-reported neurodevelopmental traits at age of 3 years (restricted and repetitive behaviors and interests, inattention, hyperactivity, language, social, and motor development). Further, we investigate to what extent direct and indirect effects are attributable to common genetic variants associated with autism, ADHD, developmental dyslexia, educational attainment, and cognitive ability using polygenic scores (PGS) in regression modeling.
We find evidence for contributions of direct and indirect latent common genetic effects to inattention (direct: explaining 4.8% of variance, indirect: 6.7%) hyperactivity (direct: 1.3%, indirect: 9.6%), and restricted and repetitive behaviors (direct: 0.8%, indirect: 7.3%). Direct effects best explained variation in social and communication, language, and motor development (5.1%-5.7%). Direct genetic effects on inattention were captured by PGS for ADHD, educational attainment, and cognitive ability, whereas direct genetic effects on language development were captured by cognitive ability, educational attainment, and autism PGS. Indirect genetic effects on neurodevelopmental traits were primarily captured by educational attainment and/or cognitive ability PGS.
Results were consistent with differential contributions to neurodevelopmental traits in early childhood from direct and indirect genetic effects. Indirect effects were particularly important for hyperactivity and restricted and repetitive behaviors and interests and may be linked to genetic variation associated with cognition and educational attainment. Our findings illustrate the importance of within-family methods for disentangling genetic processes that influence early neurodevelopmental traits, even when identifiable associations are small.
神经发育疾病具有高度遗传性。近期研究表明,基因组遗传力估计可能会受到经由环境介导的遗传效应(间接遗传效应)的混淆。然而,直接遗传效应与间接遗传效应在与神经发育疾病相关性状的早期变异性方面的相对重要性尚不清楚。
样本包括来自挪威母婴队列研究(MoBa)的多达24,692个亲子三人组。我们使用三人组基因组最佳线性无偏预测法(Trio-GCTA)来估计对母亲报告的3岁时神经发育性状(受限和重复行为及兴趣、注意力不集中、多动、语言、社交和运动发育)的潜在直接和间接遗传效应。此外,我们在回归模型中使用多基因分数(PGS)来研究直接和间接效应在多大程度上可归因于与自闭症、注意力缺陷多动障碍(ADHD)、发育性阅读障碍、教育程度和认知能力相关的常见遗传变异。
我们发现直接和间接潜在共同遗传效应对注意力不集中(直接效应:解释4.8%的变异,间接效应:6.7%)、多动(直接效应:1.3%,间接效应:9.6%)以及受限和重复行为(直接效应:0.8%,间接效应:7.3%)有贡献的证据。直接效应能最好地解释社交与沟通、语言和运动发育方面的变异(5.1%-5.7%)。对注意力不集中的直接遗传效应可由ADHD、教育程度和认知能力的PGS捕获,而对语言发育的直接遗传效应可由认知能力、教育程度和自闭症的PGS捕获。对神经发育性状的间接遗传效应主要由教育程度和/或认知能力的PGS捕获。
结果与直接和间接遗传效应在幼儿期对神经发育性状的不同贡献一致。间接效应对于多动以及受限和重复行为及兴趣尤为重要,并且可能与认知和教育程度相关的遗传变异有关。我们的研究结果表明,即使可识别的关联较小,家庭内部方法对于厘清影响早期神经发育性状的遗传过程也很重要。