Abstract

Primary open-angle glaucoma (POAG) is one of the major causes of blindness worldwide and considered to be influenced by inherited and environmental factors. Recently, we demonstrated a genome-wide association study for the susceptibility to POAG by comparing patients and controls. In addition, the serum cytokine levels, which are affected by environmental and postnatal factors, could be also obtained in patients as well as in controls, simultaneously. Here, in order to predict the effective diagnosis of POAG, we developed an “integration approach” using different attribute data which were integrated simply with several machine learning methods and random sampling. Two data sets were prepared for this study. The one is the “training data set”, which consisted of 42 POAG and 42 controls. The other is the “test data set” consisted of 73 POAG and 52 controls. We first examined for genotype and cytokine data using the training data set with general machine learning methods. After the integration approach was applied, we obtained the stable accuracy, using the support vector machine method with the radial basis function. Although our approach was based on well-known machine learning methods and a simple process, we demonstrated that the integration with two kinds of attributes, genotype and cytokines, was effective and helpful in diagnostic prediction of POAG.

Highlights

  • Glaucoma is a progressive eye disease that shows characteristic degeneration of the optic nerve and visual field defects (Kwon et al 2009)

  • In Exfoliation Glaucoma (EG), single nucleotide polymorphisms (SNPs) were highly significant on a single gene, LOXL1, by genome-wide association studies (GWAS) (Thorleifsson et al 2007; Williams et al 2010; Mabuchi et al 2008; Fan et al 2008), while in Primary open-angle glaucoma (POAG), several genes are involved as genetic risk factors

  • We focused on the serum cytokines because the relation between glaucomatous neurodegeneration and immune response was previously suggested (Tezel 2011), and several cytokines were reported to be linked with glaucoma (Huang et al 2010; Yang et al 2001)

Read more

Summary

Introduction

Glaucoma is a progressive eye disease that shows characteristic degeneration of the optic nerve and visual field defects (Kwon et al 2009). The results of many studies have suggested that a genetic contribution is one of the risk factors for the development of glaucoma (Ray & Mookherjee 2009). It is still unclear if the genetic risk factors contribute to all of the pathogenesis of glaucoma. To investigate the mechanism(s) of common diseases such as glaucoma, genome-wide association studies (GWAS) have been widely performed We performed a GWAS to identify the common POAG-associated genetic factors (Nakano et al 2009) and found a number of SNPs significantly associated with POAG.

Objectives
Methods
Results
Conclusion
Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call