Salivary Molecular Spectroscopy with Machine Learning Algorithms for a Diagnostic Triage for Amelogenesis Imperfecta

• Published in: International journal of molecular sciences Vol. 25; no. 17; p. 9464
• Main Authors: Avelar, Felipe Morando, Lanza, Célia Regina Moreira, Bernardino, Sttephany Silva, Garcia-Junior, Marcelo Augusto, Martins, Mario Machado, Carneiro, Murillo Guimarães, de Azevedo, Vasco Ariston Carvalho, Sabino-Silva, Robinson
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.09.2024
• Subjects: Accuracy; Adolescent; Adult; Algorithms; Amelogenesis Imperfecta - diagnosis; Amelogenesis Imperfecta - genetics; Amelogenesis Imperfecta - metabolism; Biomarkers; Carbohydrates; Case-Control Studies; Clean technology; Dental enamel; Discriminant Analysis; Female; Fourier transforms; Gender; Humans; Lipids; Machine Learning; Male; Pilot Projects; Proteins; Saliva - chemistry; Saliva - metabolism; Spectroscopy, Fourier Transform Infrared - methods; Spectrum analysis; Support Vector Machine; Support vector machines; Triage - methods; Young Adult; saliva; spectroscopy; FTIR; salivary diagnostics; biomarker; artificial intelligence; amelogenesis imperfecta
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms25179464

Amelogenesis imperfecta (AI) is a genetic disease characterized by poor formation of tooth enamel. AI occurs due to mutations, especially in AMEL, ENAM, KLK4, MMP20, and FAM83H, associated with changes in matrix proteins, matrix proteases, cell-matrix adhesion proteins, and transport proteins of enamel. Due to the wide variety of phenotypes, the diagnosis of AI is complex, requiring a genetic test to characterize it better. Thus, there is a demand for developing low-cost, noninvasive, and accurate platforms for AI diagnostics. This case-control pilot study aimed to test salivary vibrational modes obtained in attenuated total reflection fourier-transformed infrared (ATR-FTIR) together with machine learning algorithms: linear discriminant analysis (LDA), random forest, and support vector machine (SVM) could be used to discriminate AI from control subjects due to changes in salivary components. The best-performing SVM algorithm discriminates AI better than matched-control subjects with a sensitivity of 100%, specificity of 79%, and accuracy of 88%. The five main vibrational modes with higher feature importance in the Shapley Additive Explanations (SHAP) were 1010 cm−1, 1013 cm−1, 1002 cm−1, 1004 cm−1, and 1011 cm−1 in these best-performing SVM algorithms, suggesting these vibrational modes as a pre-validated salivary infrared spectral area as a potential biomarker for AI screening. In summary, ATR-FTIR spectroscopy and machine learning algorithms can be used on saliva samples to discriminate AI and are further explored as a screening tool.