An improved fuzzy set-based multifactor dimensionality reduction for detecting epistasis

Epistasis identification is critical for determining susceptibility to human genetic diseases. The rapid development of technology has enabled scalability to make multifactor dimensionality reduction (MDR) measurements an effective calculation tool that achieves superior detection. However, the classification of high-risk (H) or low-risk (L) groups in multidrug resistance operations calls for extensive research.

In this study, an improved fuzzy sigmoid (FS) method using the membership degree in MDR (FSMDR) was proposed for solving the limitations of binary classification. The FS method combined with MDR measurements yielded an improved ability to distinguish similar frequencies of potential multifactor genotypes.

We compared our results with other MDR-based methods and FSMDR achieved superior detection rates on simulated data sets. The results indicated that the fuzzy classifications can provide insight into the uncertainty of H/L classification in MDR operation.

FSMDR successfully detected significant epistasis of coronary artery disease in the Wellcome Trust Case Control Consortium data set.