挪威奥斯陆大学Alexey A. Shadrin等合作，通过MoBa家系遗传设计增进了对健康与功能的理解。这一研究成果2026年8月19日发表于国际学术期刊《自然》。

利用大规模、基于人群的无亲缘关系个体样本进行的全基因组关联研究，已发现了数千个与健康和疾病相关的遗传关联。这些研究有助于解释遗传和环境风险。然而，越来越多的证据表明，基于人群的估计虽然精确，但也可能反映影响其使用和解释的混杂因素。这种混杂可以利用来自基因分型家庭成员（如核心母亲-父亲-孩子三人组）的数据来克服。然而，基因分型家系样本十分罕见。在此，研究人员利用挪威母亲、父亲和儿童队列研究（MoBa）展示了家系数据的一些优势。MoBa是一项基于人群的父母与后代队列研究，拥有广泛的基因型数据（约23万人）以及健康和功能的广泛纵向表型。研究人员概述了MoBa，并描述了针对这一广泛相关样本的基因型数据质量控制。随后，他们利用三人组数据展示了基于家系的基因组设计如何识别遗传影响的独特直接和间接来源以及结构性混杂。作为示例，他们分析了儿童的身高、教育成就、抑郁症状和睡眠时长。这些示范凸显了MoBa作为一个在生命历程和代际间推进健康与功能理解的广泛宝贵资源。

附：英文原文

Title: Family genetic designs in MoBa provide insights into health and functioning

Author: Corfield, Elizabeth C., Shadrin, Alexey A., Frei, Oleksandr, Rahman, Zillur, Akdeniz, Bayram Cevdet, Filiz, Tahir Tekin, Lin, Aihua, Badini, Isabella, Hegemann, Laura, Athanasiu, Lavinia, Wootton, Robyn E., Austerberry, Chloe, Hughes, Amanda M., Tesli, Martin, Hagen, Espen, Brandlistuen, Ragnhild E., Eilertsen, Espen Moen, Westlye, Lars T., Njlstad, Pl R., Magnus, Per, Hovig, Eivind, Zayats, Tetyana, Ask, Helga, Reichborn-Kjennerud, Ted, Hemani, Gibran, Davies, Neil M., Hannigan, Laurie J., Andreassen, Ole A., Havdahl, Alexandra Karoline

Issue&Volume: 2026-08-19

Abstract: Genome-wide association studies using large, population-based samples of unrelated individuals have discovered thousands of genetic associations with health and disease. These studies can help explain genetic and environmental risks. However, increasing evidence suggests that population-based estimates, while precise, can also reflect confounding that affects their use and interpretation. This confounding can be overcome using data from genotyped family members, such as nuclear mother–father–child trios. However, samples of genotyped families are rare. Here we illustrate some of the advantages of familial data using the Norwegian Mother, Father and Child Cohort Study (MoBa), a population-based cohort of parents and offspring with extensive genotype data (n ≈ 230,000) (ref.), along with broad and longitudinal phenotyping of health and functioning. We provide an overview of MoBa and describe the quality control of genotype data tailored to this extensively related sample. We then use trio data to illustrate how family-based genomic designs can identify distinct direct and indirect sources of genetic influence and structural confounding. As examples, we analyse children’s height, educational achievement, depressive symptoms and sleep duration. These demonstrations highlight MoBa as a broadly valuable resource for advancing understanding of health and functioning across the lifecourse and generations.

DOI: 10.1038/s41586-026-10926-5

Source: https://www.nature.com/articles/s41586-026-10926-5