XGBoost-SHAP-based interpretable diagnostic framework for alzheimer’s disease

Abstract Background Due to the class imbalance issue faced when Alzheimer’s disease (AD) develops from normal cognition (NC) to mild cognitive impairment (MCI), present clinical practice is met with challenges regarding the auxiliary diagnosis of AD using machine learning (ML). This leads to low dia...

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Main Authors: Fuliang Yi, Hui Yang, Durong Chen, Yao Qin, Hongjuan Han, Jing Cui, Wenlin Bai, Yifei Ma, Rong Zhang, Hongmei Yu
Format: Article
Language:English
Published: BMC 2023-07-01
Series:BMC Medical Informatics and Decision Making
Subjects:
Online Access:https://doi.org/10.1186/s12911-023-02238-9
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author Fuliang Yi
Hui Yang
Durong Chen
Yao Qin
Hongjuan Han
Jing Cui
Wenlin Bai
Yifei Ma
Rong Zhang
Hongmei Yu
author_facet Fuliang Yi
Hui Yang
Durong Chen
Yao Qin
Hongjuan Han
Jing Cui
Wenlin Bai
Yifei Ma
Rong Zhang
Hongmei Yu
author_sort Fuliang Yi
collection DOAJ
description Abstract Background Due to the class imbalance issue faced when Alzheimer’s disease (AD) develops from normal cognition (NC) to mild cognitive impairment (MCI), present clinical practice is met with challenges regarding the auxiliary diagnosis of AD using machine learning (ML). This leads to low diagnosis performance. We aimed to construct an interpretable framework, extreme gradient boosting-Shapley additive explanations (XGBoost-SHAP), to handle the imbalance among different AD progression statuses at the algorithmic level. We also sought to achieve multiclassification of NC, MCI, and AD. Methods We obtained patient data from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database, including clinical information, neuropsychological test results, neuroimaging-derived biomarkers, and APOE-ε4 gene statuses. First, three feature selection algorithms were applied, and they were then included in the XGBoost algorithm. Due to the imbalance among the three classes, we changed the sample weight distribution to achieve multiclassification of NC, MCI, and AD. Then, the SHAP method was linked to XGBoost to form an interpretable framework. This framework utilized attribution ideas that quantified the impacts of model predictions into numerical values and analysed them based on their directions and sizes. Subsequently, the top 10 features (optimal subset) were used to simplify the clinical decision-making process, and their performance was compared with that of a random forest (RF), Bagging, AdaBoost, and a naive Bayes (NB) classifier. Finally, the National Alzheimer’s Coordinating Center (NACC) dataset was employed to assess the impact path consistency of the features within the optimal subset. Results Compared to the RF, Bagging, AdaBoost, NB and XGBoost (unweighted), the interpretable framework had higher classification performance with accuracy improvements of 0.74%, 0.74%, 1.46%, 13.18%, and 0.83%, respectively. The framework achieved high sensitivity (81.21%/74.85%), specificity (92.18%/89.86%), accuracy (87.57%/80.52%), area under the receiver operating characteristic curve (AUC) (0.91/0.88), positive clinical utility index (0.71/0.56), and negative clinical utility index (0.75/0.68) on the ADNI and NACC datasets, respectively. In the ADNI dataset, the top 10 features were found to have varying associations with the risk of AD onset based on their SHAP values. Specifically, the higher SHAP values of CDRSB, ADAS13, ADAS11, ventricle volume, ADASQ4, and FAQ were associated with higher risks of AD onset. Conversely, the higher SHAP values of LDELTOTAL, mPACCdigit, RAVLT_immediate, and MMSE were associated with lower risks of AD onset. Similar results were found for the NACC dataset. Conclusions The proposed interpretable framework contributes to achieving excellent performance in imbalanced AD multiclassification tasks and provides scientific guidance (optimal subset) for clinical decision-making, thereby facilitating disease management and offering new research ideas for optimizing AD prevention and treatment programs.
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spelling doaj.art-2f7158995ba544838dc87c3f0dbde75f2023-07-30T11:17:17ZengBMCBMC Medical Informatics and Decision Making1472-69472023-07-0123111410.1186/s12911-023-02238-9XGBoost-SHAP-based interpretable diagnostic framework for alzheimer’s diseaseFuliang Yi0Hui Yang1Durong Chen2Yao Qin3Hongjuan Han4Jing Cui5Wenlin Bai6Yifei Ma7Rong Zhang8Hongmei Yu9Department of Health Statistics, School of Public Health, Shanxi Medical UniversityDepartment of Health Statistics, School of Public Health, Shanxi Medical UniversityDepartment of Health Statistics, School of Public Health, Shanxi Medical UniversityDepartment of Health Statistics, School of Public Health, Shanxi Medical UniversityDepartment of Health Statistics, School of Public Health, Shanxi Medical UniversityDepartment of Health Statistics, School of Public Health, Shanxi Medical UniversityDepartment of Health Statistics, School of Public Health, Shanxi Medical UniversityDepartment of Health Statistics, School of Public Health, Shanxi Medical UniversityDepartment of Health Statistics, School of Public Health, Shanxi Medical UniversityDepartment of Health Statistics, School of Public Health, Shanxi Medical UniversityAbstract Background Due to the class imbalance issue faced when Alzheimer’s disease (AD) develops from normal cognition (NC) to mild cognitive impairment (MCI), present clinical practice is met with challenges regarding the auxiliary diagnosis of AD using machine learning (ML). This leads to low diagnosis performance. We aimed to construct an interpretable framework, extreme gradient boosting-Shapley additive explanations (XGBoost-SHAP), to handle the imbalance among different AD progression statuses at the algorithmic level. We also sought to achieve multiclassification of NC, MCI, and AD. Methods We obtained patient data from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database, including clinical information, neuropsychological test results, neuroimaging-derived biomarkers, and APOE-ε4 gene statuses. First, three feature selection algorithms were applied, and they were then included in the XGBoost algorithm. Due to the imbalance among the three classes, we changed the sample weight distribution to achieve multiclassification of NC, MCI, and AD. Then, the SHAP method was linked to XGBoost to form an interpretable framework. This framework utilized attribution ideas that quantified the impacts of model predictions into numerical values and analysed them based on their directions and sizes. Subsequently, the top 10 features (optimal subset) were used to simplify the clinical decision-making process, and their performance was compared with that of a random forest (RF), Bagging, AdaBoost, and a naive Bayes (NB) classifier. Finally, the National Alzheimer’s Coordinating Center (NACC) dataset was employed to assess the impact path consistency of the features within the optimal subset. Results Compared to the RF, Bagging, AdaBoost, NB and XGBoost (unweighted), the interpretable framework had higher classification performance with accuracy improvements of 0.74%, 0.74%, 1.46%, 13.18%, and 0.83%, respectively. The framework achieved high sensitivity (81.21%/74.85%), specificity (92.18%/89.86%), accuracy (87.57%/80.52%), area under the receiver operating characteristic curve (AUC) (0.91/0.88), positive clinical utility index (0.71/0.56), and negative clinical utility index (0.75/0.68) on the ADNI and NACC datasets, respectively. In the ADNI dataset, the top 10 features were found to have varying associations with the risk of AD onset based on their SHAP values. Specifically, the higher SHAP values of CDRSB, ADAS13, ADAS11, ventricle volume, ADASQ4, and FAQ were associated with higher risks of AD onset. Conversely, the higher SHAP values of LDELTOTAL, mPACCdigit, RAVLT_immediate, and MMSE were associated with lower risks of AD onset. Similar results were found for the NACC dataset. Conclusions The proposed interpretable framework contributes to achieving excellent performance in imbalanced AD multiclassification tasks and provides scientific guidance (optimal subset) for clinical decision-making, thereby facilitating disease management and offering new research ideas for optimizing AD prevention and treatment programs.https://doi.org/10.1186/s12911-023-02238-9Alzheimer’s diseaseMachine learningImbalanced classesMulticlassificationInterpretable frameworkXGBoost-SHAP
spellingShingle Fuliang Yi
Hui Yang
Durong Chen
Yao Qin
Hongjuan Han
Jing Cui
Wenlin Bai
Yifei Ma
Rong Zhang
Hongmei Yu
XGBoost-SHAP-based interpretable diagnostic framework for alzheimer’s disease
BMC Medical Informatics and Decision Making
Alzheimer’s disease
Machine learning
Imbalanced classes
Multiclassification
Interpretable framework
XGBoost-SHAP
title XGBoost-SHAP-based interpretable diagnostic framework for alzheimer’s disease
title_full XGBoost-SHAP-based interpretable diagnostic framework for alzheimer’s disease
title_fullStr XGBoost-SHAP-based interpretable diagnostic framework for alzheimer’s disease
title_full_unstemmed XGBoost-SHAP-based interpretable diagnostic framework for alzheimer’s disease
title_short XGBoost-SHAP-based interpretable diagnostic framework for alzheimer’s disease
title_sort xgboost shap based interpretable diagnostic framework for alzheimer s disease
topic Alzheimer’s disease
Machine learning
Imbalanced classes
Multiclassification
Interpretable framework
XGBoost-SHAP
url https://doi.org/10.1186/s12911-023-02238-9
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