1)安徽卫生健康职业学院实验实训中心,池州 247100;2)安徽省第二人民医院骨科,合肥 240041
安徽省教育厅自然科学重点研究项目(KJ2021A1564),高校优秀青年骨干人才国内访学研修项目(gxgnfx2022211)和安徽省教育厅优秀青年教师培育重点项目(YQZD2024099)资助。
1)Experimental Training Center, Anhui Health College, Chizhou 247100, China;2)Department of Orthopedics, Anhui Second People’s Hospital, Hefei 240041, China
This work was supported by grants from the Key Research Project of Natural Science of the Anhui Provincial Department of Education (KJ2021A1564), the Domestic Visiting Scholar Program for Outstanding Young Faculty Members in Universities (gxgnfx2022211), and the Key Training Program for Outstanding Young Teachers of the Anhui Provincial Department of Education (YQZD2024099).
目的 旨在构建并验证一种基于深度学习的多维特征融合风险评估算法模型,以提升早期识别骨质疏松和预测骨折风险能力。方法 纳入来自多组数据库的12 856名受试者数据,通过多模态深度学习框架,整合骨密度测量值、骨微结构参数、骨转换标志物、临床风险因素、基因标记物和体感数据等多维特征,构建风险评估算法模型,并在独立外部数据集上评估算法性能。结果 在测试集上,该算法预测骨质疏松症的准确率为89.7%,敏感度为87.5%,特异度为91.2%,受试者工作特征曲线下面积(AUC)为0.936(95%置信区间(CI):0.927~0.945),简化模型AUC为0.917(95%CI:0.905~0.931),优于传统FRAX?模型(AUC=0.842,95%CI:0.829~0.855),在独立外部验证集上AUC为0.918(95%CI:0.905~0.931)。特征重要性分析显示,骨密度、骨小梁分离度、I型胶原C端肽、平衡参数和特定基因多态性是重要的预测因素。亚组分析显示,该算法在不同性别、年龄和种族人群中均表现良好。结论 基于多维特征融合算法模型可显著提高骨质疏松风险评估的准确性和个体化水平,具有良好的泛化能力和临床应用前景,有望为临床实践提供更精准的决策支持工具。
Objective Osteoporosis is a progressive metabolic bone disorder characterized by reduced bone mass and microarchitectural deterioration, leading to increased skeletal fragility and susceptibility to fracture. Conventional diagnostic and risk-assessment approaches, such as dual-energy X-ray absorptiometry (DXA) and the FRAX? algorithm, remain limited because they rely primarily on bone mineral density (BMD) and a restricted set of clinical factors, failing to capture the multidimensional determinants of bone strength. This study aimed to develop and validate a deep learning-based multi-dimensional feature fusion model that integrates heterogeneous biological, structural, functional, and genetic information to improve the early identification of osteoporosis and enhance fracture risk prediction.Methods A total of 12 856 participants were aggregated from three major data repositories: the International Osteoporosis Foundation database, a clinical research database on osteoporosis, and a large-scale medical informatics dataset. A unified data-extraction protocol was applied to ensure cross-database harmonization, followed by quality control, variable standardization, and missing-data handling using multiple imputation by chained equations (MICE). A multimodal deep learning framework was constructed to integrate six categories of features: BMD measurements, quantitative bone microarchitecture parameters, bone turnover biomarkers, established clinical risk factors, osteoporosis-related genetic polymorphisms, and sensor-derived balance and gait metrics. A multi-task learning strategy was adopted to simultaneously predict osteoporosis status and 10-year fracture probability. Model training used five-fold cross-validation, and external validation was conducted in an independent clinical cohort. Model performance was benchmarked against DXA alone and the FRAX tool.Results In the internal test cohort, the proposed model achieved an AUC of 0.936 (95% CI: 0.927-0.945), with a sensitivity of 87.5% and a specificity of 91.2%, significantly outperforming DXA alone (AUC=0.889) and FRAX (AUC=0.842) (both P<0.05). External validation yielded an AUC of 0.918 (95% CI: 0.905-0.931) and demonstrated strong calibration (Brier score=0.087). SHAP analyses revealed that, beyond BMD, key predictors included trabecular separation, serum C-terminal telopeptide of type I collagen, balance-related metrics, gait speed, and specific SNPs within the RANKL and VDR loci. A simplified model incorporating only BMD, clinical features, and bone turnover markers preserved high accuracy (AUC=0.917), underscoring its feasibility for resource-limited clinical environments.Conclusion The deep learning-based multi-dimensional feature fusion model markedly enhances the precision and individualization of osteoporosis assessment compared with traditional tools. By integrating biological, structural, metabolic, genetic, and functional dimensions of bone health, the model provides a comprehensive representation of skeletal integrity and robustly improves both diagnostic accuracy and fracture risk prediction. Its strong generalizability across demographic subgroups highlights its clinical applicability. This work offers a promising direction for developing next-generation intelligent decision-support systems that may meaningfully improve osteoporosis screening, risk stratification, and preventive care.
王朝亚,孟超.多维特征融合骨质疏松风险评估模型研究[J].生物化学与生物物理进展,2026,53(1):238-248
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