The Identification of Discriminative Single Nucleotide Polymorphism Sets for the Classification of Behçet's Disease

Abstract

Behçet's disease is a long-term multisystem inflammatory disorder, characterized by recurrent attacks affecting several organs. As the genotyping individuals get cheaper and easier following the developments in genomic technologies, genome-wide association studies (GWAS) emerged. By this means, via studying big-sized case-control groups for a specific disease, potential genetic variations, single nucleotide polymorphisms (SNPs) are identified. Although several genetic risk factors are identified for Behçet's disease with the help of these studies via scanning around a million of SNPs, these variations could only explain up to 20% of the disease's genetic risk. In this study, for Behçet's disease classification, via comparing all the SNPs genotyped in GWAS, with the SNPs selected via using genetic knowledge, gain ratio and information gain; both reduction in the feature size and improvement in the classification accuracy is aimed. Also, using different classification algorithms such as random forest, k-nearest neighbour and logistic regression, their effects on the classification accuracy are investigated. Our results showed that compared to other feature selection methods, with at least 81% success rate, the selection of the SNPs using the genetic information (of their GWAS p-values, indicating the significance of the SNP against the disease) provides 15% to 42% improvement in all classification algorithms. This improvement is statistically sound. While gain ratio and information gain feature selection techniques yield similar classification accuracies, the models using all SNPs could not exceed 50% accuracies and results in the worst performance. © 2019 Elsevier B.V., All rights reserved.