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神经退行性疾病个性化预防风险因素知识库2.0:更新与扩展

NDDRF 2.0: An update and expansion of risk factor knowledge base for personalized prevention of neurodegenerative diseases.

作者信息

Bi Cheng, Zheng Xin, Zhang Yuxin, Zhou Shengrong, Song Jie, Shang Huifang, Shen Bairong

机构信息

Department of Neurology and Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, China.

Center for Systems Biology, Soochow University, Suzhou, China.

出版信息

Alzheimers Dement. 2025 May;21(5):e70282. doi: 10.1002/alz.70282.

Abstract

INTRODUCTION

Neurodegenerative diseases (NDDs) are chronic diseases caused by brain neuron degeneration, requiring systematic integration of risk factors to address their heterogeneity. Established in 2021, Knowledgebase of Risk Factors for Neurodegenerative Diseases (NDDRF) was the first knowledge base to consolidate NDD risk factors. NDDRF 2.0 expands focus to modifiable lifestyle-related factors, enhancing utility for NDD prevention.

METHODS

Data from the past 4 years were comprehensively updated, while lifestyle factors were manually collected and filtered from 1975 to 2024. Each factor was embedded with International Classification of Diseases codes and clinical stage annotations, and then re-standardized, classified, and annotated in accordance with the Unified Medical Language System Semantic Network.

RESULTS

NDDRF 2.0 encompasses 1971 risk factors classified under 151 subcategories across 20 NDDs, including 536 lifestyle-related factors covering six major categories and is freely accessible at http://sysbio.org.cn/NDDRF/.

DISCUSSION

As the first lifestyle-specific and holistic knowledge base for NDDs, NDDRF 2.0 offers structured and deep phenotype information, enabling personalized prevention strategies and clinical decision support.

HIGHLIGHTS

An enhanced lifestyle-specific and holistic knowledge base (Knowledgebase of Risk Factors for Neurodegenerative Diseases [NDDRF] 2.0) was built for neurodegenerative diseases (NDDs). NDDRF 2.0 provides detailed categorization and deep phenotypes to support targeted NDD prevention. NDDRF 2.0 provides a knowledge-driven resource that facilitates personalized risk assessment and proactive health management. NDDRF 2.0 provides clinicians, researchers, and at-risk populations with knowledge to develop and implement effective risk prevention strategies. NDDRF 2.0 can be used to build chatbots by enhancing large language models in the future.

摘要

引言

神经退行性疾病(NDDs)是由脑神经元退化引起的慢性疾病,需要对风险因素进行系统整合以应对其异质性。神经退行性疾病风险因素知识库(NDDRF)于2021年建立,是首个整合NDD风险因素的知识库。NDDRF 2.0将重点扩展到与生活方式相关的可改变因素,提高了其在NDD预防中的实用性。

方法

对过去4年的数据进行了全面更新,同时手动收集并筛选了1975年至2024年的生活方式因素。每个因素都嵌入了国际疾病分类代码和临床阶段注释,然后根据统一医学语言系统语义网络进行重新标准化、分类和注释。

结果

NDDRF 2.0包含1971个风险因素,分为20种NDD的151个亚类,其中包括涵盖六大类的536个与生活方式相关的因素,可在http://sysbio.org.cn/NDDRF/免费获取。

讨论

作为首个针对NDDs的特定生活方式且全面的知识库,NDDRF 2.0提供了结构化的深度表型信息,可实现个性化预防策略和临床决策支持。

亮点

为神经退行性疾病(NDDs)构建了一个增强的特定生活方式且全面的知识库(神经退行性疾病风险因素知识库[NDDRF] 2.0)。NDDRF 2.0提供了详细的分类和深度表型,以支持针对性的NDD预防。NDDRF 2.0提供了一个知识驱动的资源,便于进行个性化风险评估和积极的健康管理。NDDRF 2.0为临床医生、研究人员和高危人群提供了制定和实施有效风险预防策略的知识。NDDRF 2.0未来可用于通过增强大语言模型构建聊天机器人。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/745d/12079438/d17739fc48a1/ALZ-21-e70282-g006.jpg

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