Development of an individualized dementia risk prediction model using deep learning survival analysis incorporating genetic and environmental factors.

IF 7.9 1区 医学 Q1 CLINICAL NEUROLOGY
Shiqi Yuan, Qing Liu, Xiaxuan Huang, Shanyuan Tan, Zihong Bai, Juan Yu, Fazhen Lei, Huan Le, Qingqing Ye, Xiaoxue Peng, Juying Yang, Yitong Ling, Jun Lyu
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引用次数: 0

Abstract

Background: Dementia is a major public health challenge in modern society. Early detection of high-risk dementia patients and timely intervention or treatment are of significant clinical importance. Neural network survival analysis represents the most advanced technology for survival analysis to date. However, there is a lack of deep learning-based survival analysis models that integrate both genetic and clinical factors to develop and validate individualized dynamic dementia risk prediction models.

Methods and results: This study is based on a large prospective cohort from the UK Biobank, which includes a total of 41,484 participants with an average follow-up period of 12.6 years. Initially, 364 candidate features (predictor variables) were screened. The top 30 key features were then identified by ranking the importance of each predictor variable using the Gradient Boosting Machine (GBM) model. A multi-model comparison strategy was employed to evaluate the predictive performance of four survival analysis models: DeepSurv, DeepHit, Kaplan-Meier estimation, and the Cox proportional hazards model (CoxPH). The results showed that the average Harrell's C-index for the DeepSurv model was 0.743, for the DeepHit model it was 0.633, for the CoxPH model it was 0.749, and for the Kaplan-Meier estimator model it was 0.500. In addition, the average D-Calibration Survival Measure was 6.014, 4408.086, 32274.743, and 1.508, respectively. The Brier score (BS) was used to assess the importance of features for the DeepSurv dementia prediction model, and the relationship between features and dementia was visualized using a partial dependence plot (PDP). To facilitate further research, the team deployed the DeepSurv dementia prediction model on AliCloud servers and designated it as the UKB-DementiaPre Tool.

Conclusion: This study successfully developed and validated the DeepSurv dementia prediction model for individuals aged 60 years and above, integrating both genetic and clinical data. The model was then deployed on AliCloud servers to promote its clinical translation. It is anticipated that this prediction model will provide more accurate decision support for clinical treatment and will serve as a valuable tool for the primary prevention of dementia.

利用结合遗传和环境因素的深度学习生存分析开发个体化痴呆风险预测模型。
背景:痴呆是现代社会面临的重大公共卫生挑战。早期发现高危痴呆患者并及时干预或治疗具有重要的临床意义。神经网络生存分析是迄今为止最先进的生存分析技术。然而,目前还缺乏基于深度学习的生存分析模型,该模型可以整合遗传和临床因素来开发和验证个性化的动态痴呆风险预测模型。方法和结果:本研究基于英国生物银行(UK Biobank)的一个大型前瞻性队列,其中包括41,484名参与者,平均随访期为12.6年。最初,筛选了364个候选特征(预测变量)。然后通过使用梯度增强机(GBM)模型对每个预测变量的重要性进行排序来确定前30个关键特征。采用多模型比较策略评估四种生存分析模型的预测性能:DeepSurv、DeepHit、Kaplan-Meier估计和Cox比例风险模型(Cox proportional hazards model, Cox)。结果表明,DeepSurv模型的平均Harrell’s c指数为0.743,deepphit模型的平均Harrell’s c指数为0.633,cox模型的平均Harrell’s c指数为0.749,Kaplan-Meier估计模型的平均Harrell’s c指数为0.500。d -校准生存测量平均值分别为6.014、4408.086、32274.743和1.508。使用Brier评分(BS)评估特征对DeepSurv痴呆预测模型的重要性,并使用部分依赖图(PDP)可视化特征与痴呆之间的关系。为了便于进一步研究,该团队在阿里云服务器上部署了DeepSurv痴呆症预测模型,并将其命名为ukb -痴呆症预测工具。结论:本研究成功开发并验证了针对60岁及以上人群的DeepSurv痴呆预测模型,该模型整合了遗传和临床数据。该模型随后被部署在阿里云服务器上,以推广其临床翻译。预计该预测模型将为临床治疗提供更准确的决策支持,并将作为痴呆一级预防的宝贵工具。
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来源期刊
Alzheimer's Research & Therapy
Alzheimer's Research & Therapy 医学-神经病学
CiteScore
13.10
自引率
3.30%
发文量
172
审稿时长
>12 weeks
期刊介绍: Alzheimer's Research & Therapy is an international peer-reviewed journal that focuses on translational research into Alzheimer's disease and other neurodegenerative diseases. It publishes open-access basic research, clinical trials, drug discovery and development studies, and epidemiologic studies. The journal also includes reviews, viewpoints, commentaries, debates, and reports. All articles published in Alzheimer's Research & Therapy are included in several reputable databases such as CAS, Current contents, DOAJ, Embase, Journal Citation Reports/Science Edition, MEDLINE, PubMed, PubMed Central, Science Citation Index Expanded (Web of Science) and Scopus.
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