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利用全国性队列揭示多疾病和疾病轨迹的可遗传成分。

Uncovering the heritable components of multimorbidities and disease trajectories using a nationwide cohort.

机构信息

Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Methods and Analysis, Statistics Denmark, Copenhagen, Denmark.

出版信息

Nat Commun. 2024 Aug 28;15(1):7457. doi: 10.1038/s41467-024-51795-8.

DOI:10.1038/s41467-024-51795-8
PMID:39198472
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11358290/
Abstract

Quantifying the contribution of genetics and environmental effects on disease initiation and progression, as well as the shared genetics of different diseases, is vital for the understanding of the disease etiology of multimorbidities. In this study, we leverage nationwide Danish registries to provide a granular atlas of the genetic origin of disease phenotypes for a cohort of all Danes 1978-2018 with partially known pedigree (n = 6.3 million). We estimate the heritability and genetic correlation between thousands of disease phenotypes using a novel approach that can be scaled to nationwide data. Our findings confirm the importance of genetics for a number of known associations and increase the resolution of heritability by adding numerous associations, some of which point to shared biologically origin of different phenotypes. We also establish the heritability of disease trajectories and the importance of sex-specific genetic contributions. Results can be accessed at https://h2.cpr.ku.dk/ .

摘要

量化遗传和环境因素对疾病发生和发展的贡献，以及不同疾病的共同遗传基础，对于理解多种疾病的病因至关重要。在这项研究中，我们利用丹麦全国性的登记处，为 1978 年至 2018 年间部分已知家族史的所有丹麦人（n=630 万）提供了疾病表型遗传起源的详细图谱。我们使用一种可以扩展到全国性数据的新方法，估计了数千种疾病表型的遗传力和遗传相关性。我们的研究结果证实了遗传对许多已知关联的重要性，并通过增加许多关联来提高遗传力的分辨率，其中一些关联表明不同表型具有共同的生物学起源。我们还确定了疾病轨迹的遗传力以及性别特异性遗传贡献的重要性。结果可在 https://h2.cpr.ku.dk/ 上获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/ee6d8ba21884/41467_2024_51795_Fig10_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/acab827ec7b4/41467_2024_51795_Fig1_HTML.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/5da3caceca5f/41467_2024_51795_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/49629ebb5e45/41467_2024_51795_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/0f9163bfcad6/41467_2024_51795_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/7e9393b65a9f/41467_2024_51795_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/3a136f95ce2c/41467_2024_51795_Fig8_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/7119c8d62b89/41467_2024_51795_Fig9_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/ee6d8ba21884/41467_2024_51795_Fig10_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/acab827ec7b4/41467_2024_51795_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/22b6b80f33eb/41467_2024_51795_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/8269c7316e39/41467_2024_51795_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/5da3caceca5f/41467_2024_51795_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/49629ebb5e45/41467_2024_51795_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/0f9163bfcad6/41467_2024_51795_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/7e9393b65a9f/41467_2024_51795_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/3a136f95ce2c/41467_2024_51795_Fig8_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/7119c8d62b89/41467_2024_51795_Fig9_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f514/11358290/ee6d8ba21884/41467_2024_51795_Fig10_HTML.jpg

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