Journal of the Korea Institute of Information and Communication Engineering (한국정보통신학회논문지)

The Korea Institute of Information and Commucation Engineering (한국정보통신학회)
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Prediction for Periodontal Disease using Gene Expression Profile Data based on Machine Learning

기계학습 기반 유전자 발현 데이터를 이용한 치주질환 예측

  • Rhee, Je-Keun (Department of Life Science in Dentistry, School of Dentistry, Pusan National University)
  • Received : 2019.07.15
  • Accepted : 2019.07.30
  • Published : 2019.08.31
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Abstract

Periodontal disease is observed in many adult persons. However we has not clear know the molecular mechanism and how to treat the disease at the molecular levels. Here, we investigated the molecular differences between periodontal disease and normal controls using gene expression data. In particular, we checked whether the periodontal disease and normal tissues would be classified by machine learning algorithms using gene expression data. Moreover, we revealed the differentially expression genes and their function. As a result, we revealed that the periodontal disease and normal control samples were clearly clustered. In addition, by applying several classification algorithms, such as decision trees, random forests, support vector machines, the two samples were classified well with high accuracy, sensitivity and specificity, even though the dataset was imbalanced. Finally, we found that the genes which were related to inflammation and immune response, were usually have distinct patterns between the two classes.

치주질환은 상당수의 성인들이 가지고 있는 질환이지만 아직 분자적인 수준에서의 발생 기작과 치료 방법에 대해서는 많은 것이 밝혀져 있지 않다. 본 연구에서는 치주질환 조직과 정상 조직에서 얻어진 유전자 발현 데이터를 이용하여 치주질환 조직과 정상 조직 사이에 분자적 차이가 있는지를 확인한다. 특히 기계학습 알고리즘을 이용하여 유전자 발현양 기반 치주질환 조직과 정상 조직의 분류가 가능한지를 확인하고, 각 조직에서 발현양 차이가 나는 유전자들이 주로 어떤 기능을 하는 것인지 살펴본다. t-SNE를 이용한 분석 결과 정상 조직과 치주질환 조직 샘플이 명확히 구분되어 군집화 될 수 있음이 확인되었다. 또한, 결정 트리, 랜덤 포레스트, 서포트 벡터 머신을 이용한 분류 알고리즘을 적용한 결과 불균형 데이터임에도 높은 정확도와 민감도, 특이도를 보였으며, 염증 반응 및 면역 반응 관련 유전자들이 주로 두 집단 간에 차이를 보임이 확인되었다.

Keywords

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