AB062. Identification of disease susceptibility genes in Filipino SSPE patients
Part 4: Oral/poster

AB062. Identification of disease susceptibility genes in Filipino SSPE patients

Catherine Lynn Silao1,2, Marissa Lukban2, Aida Salonga2, Benilda Sanchez-Gan2, Martha Lu2, Judy Pipo-Deveza2, Jose Nevado1,3

1Institute of Human Genetics, National Institutes of Health, Philippines; 2Department of Pediatrics, University of the Philippines-Philippine General Hospital, Philippines; 3Department of Biochemistry and Molecular Biology, College of Medicine, University of the Philippines, Philippines

Background: Subacute sclerosing panencephalitis (SSPE) is a fatal neurodegenerative disease resulting from long-term persistence of the measles virus in the brain. Host genetic factors contributing to SSPE predisposition were investigated in the study.

Methods: Microarray technology, genotyping of candidate genes and whole genome expression profiling were done to determine the genes and pathways that are associated to the development of SSPE in Filipinos.

Results: Significant association was observed in MXA variants. Polymorphisms tested in the IL-4, IL-10, IFN- γ and IRF-1 genes did not show significant association. Differential expression analysis between patients and controls showed altered expression in 851 probes majority of which were underexpressed in SSPE patients. Functional annotation of the genes showed that many are immunity-related and are particularly involved in viral response. Comparison of expression levels between patients in remission (stage 1) and diseased patients (stages 2, 3, and 4) revealed 496 differentially expressed probes, 138 were downregulated in diseased patients. Most of these genes have immune response function particularly involved in viral response. More importantly, significant differentially expressed genes with no a priori association with SSPE were identified in the pathway analysis.

Conclusions: Results of the study provided additional evidence that the host immune response has a key role in SSPE etiology. It is recommended that further investigation be done to test for association of the differentially expressed genes with SSPE risk either by genotyping or functional analysis.

Keywords: Subacute sclerosing panencephalitis (SSPE); measles; neurodegenerative; microarray

Cite this abstract as: Silao CL, Lukban M, Salonga A, Sanchez-Gan B, Lu M, Pipo-Deveza J, Nevado J. Identification of disease susceptibility genes in Filipino SSPE patients. Ann Transl Med 2015;3(S2):AB062. doi: 10.3978/j.issn.2305-5839.2015.AB062

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