基于中国人群健康增龄研究队列的多组学数据融合进展

刘鲁笛; 何佳林; 叶炳琪; 杨嘉璐; 夏敏; 柳雁

doi:10.16462/j.cnki.zhjbkz.2025.08.014

基于中国人群健康增龄研究队列的多组学数据融合进展

doi: 10.16462/j.cnki.zhjbkz.2025.08.014

中山大学公共卫生学院营养与食品卫生学系，广州 510080

基金项目:

国家重点研发计划项目 2023YFC3606300

详细信息

通讯作者:
柳雁，E-mail: liuyan215@mail.sysu.edu.cn

中图分类号: R181;R319
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出版历程
- 收稿日期: 2025-02-24
- 修回日期: 2025-05-30
- 刊出日期: 2025-08-10

Multi-omics data integration progress based on the Chinese healthy aging research cohort

Department of Nutrition and Food Hygiene, School of Public Health, Sun Yat-sen University, Guangzhou 510080, China

Funds:

National Key Research and Development Program of China 2023YFC3606300

More Information

Corresponding author: LIU Yan, E-mail: liuyan215@mail.sysu.edu.cn

摘要

摘要: 随着我国人口老龄化的加剧，从分子层面评估增龄过程中机体的动态变化，发现新的生物标志物，对于减轻老年人口疾病负担、改善老年人生活质量具有重要意义。西方国家较早地开展了专业性、多样化的衰老和老年健康研究项目，并建立多个大型人群纵向队列。我国也相继开展多个健康老龄化的研究，积累了丰富的增龄健康相关数据。但国内相关研究仍存在共享性不足、样本资源库的信息化和标准化程度不高等问题，缺乏全面且高精度的具有全国代表性的标准化多组学数据库。通过中国人群健康增龄研究队列的多组学数据融合，将推动全国代表性队列的多组学数据融合和清洗，为我国大型人群队列研究中数据融合规范的制定提供借鉴。
- 老龄化 /
- 多组学数据 /
- 队列研究
Abstract: With the acceleration of population aging in China, assessing the dynamic changes in the body at the molecular level during the aging process and discovering new biomarkers are of great significance for reducing the disease burden of the elderly population and improving their quality of life. Western countries have earlier initiated specialized and diverse research projects on aging and elderly health, establishing multiple large-scale longitudinal population cohorts. China has also successively launched several healthy aging studies, accumulating a wealth of aging-related health data. However, domestic research still faces challenges such as insufficient data sharing, low levels of informatization and standardization in sample resource repositories, and a lack of comprehensive, high-precision, and nationally representative standardized multi-omics databases. Through the integration of multi-omics data in the Chinese healthy aging research cohort, it will promote the integration and cleaning of multi-omics data in nationally representative cohorts, providing a reference for the formulation of data integration standards in large-scale population cohort studies in China.
- Aging /
- Multi-omics data /
- Cohort study

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表 1 单核苷酸多态性剔除原因及标准

Table 1. Reasons and criteria for single nucleotide polymorphism exclusion

剔除原因 Exclusion reason	剔除标准 Exclusion criteri
等位基因不平衡 Allelic imbalance	不符合哈迪-温伯格平衡准则(P < 0.000 1)的单核苷酸多态性剔除 Single nucleotide polymorphisms failing Hardy-Weinberg equilibrium test (P < 0.000 1)
等位基因重复 Allelic duplication	重复或者多等位基因的单核苷酸多态性，以确保数据的一致性 Single nucleotide polymorphisms with duplicate or multiple alleles to ensure data consistency
低质量单核苷酸多态性 Low-quality single nucleotide polymorphisms	插补质量分数＜0.3的单核苷酸多态性，保证数据的准确性 Single nucleotide polymorphisms with imputation quality score < 0.3 to guarantee data accuracy
低检出率单核苷酸多态性 Low-call-rate single nucleotide polymorphisms	最小等位基因频率＜1%的单核苷酸多态性，进一步确保研究的统计效力 Single nucleotide polymorphisms with minor allele frequency < 1% to enhance statistical power

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