<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Epilepsy is a complex disease with a strong genetic component. So far, studies have focused on experimental validation or genome-wide linkage scans for epilepsy susceptibility genes in multiple populations. We have used four bioinformatic tools (SNPs3D, PROSPECTR and SUSPECTS, GenWanderer, PosMed) to analyze 16 susceptibility loci selected from a literature search. Pathways and regulatory network analyses were performed using the Ingenuity Pathways Analysis (IPA) software. We identified a subset of 48 candidate epilepsy susceptibility genes. Five significant canonical pathways, in four typical networks, were identified: GABA receptor signaling, interleukin-6 (IL-6) signaling, G-protein coupled receptor signaling, type 2 diabetes mellitus signaling and airway inflammation in asthma. We concluded that online analytical tools provide a powerful way to reveal candidate genes which can greatly reduce experimental time. Our study contributes to further experimental tests for epilepsy susceptibility genes.</p></abstract>

Epilepsy is a complex disease with a strong genetic component. So far, studies have focused on experimental validation or genome-wide linkage scans for epilepsy susceptibility genes in multiple populations. We have used four bioinformatic tools (SNPs3D, PROSPECTR and SUSPECTS, GenWanderer, PosMed) to analyze 16 susceptibility loci selected from a literature search. Pathways and regulatory network analyses were performed using the Ingenuity Pathways Analysis (IPA) software. We identified a subset of 48 candidate epilepsy susceptibility genes. Five significant canonical pathways, in four typical networks, were identified: GABA receptor signaling, interleukin-6 (IL-6) signaling, G-protein coupled receptor signaling, type 2 diabetes mellitus signaling and airway inflammation in asthma. We concluded that online analytical tools provide a powerful way to reveal candidate genes which can greatly reduce experimental time. Our study contributes to further experimental tests for epilepsy susceptibility genes.

Exploring Candidate Genes for Epilepsy by Computational Disease-Gene Identification Strategy

Department of Neurology, First Hospital of Jilin University, Jilin Province, People's Republic of China

Balkan Journal of Medical Genetics

Epilepsy is a complex disease with a strong genetic component. So far, studies have focused on experimental validation or genome-wide linkage scans for...

Exploring Candidate Genes for Epilepsy by Computational Disease-Gene Identification Strategy

Pubblicato online: 20 gen 2011

Pagine: 35 - 40

DOI: https://doi.org/10.2478/v10034-010-0024-6

Parole chiave
Epilepsy, Susceptibility genes, Prioritization, Pathways and networks

This content is open access.

Exploring Candidate Genes for Epilepsy by Computational Disease-Gene Identification Strategy

Pubblicato online: 20 gen 2011

Pagine: 35 - 40

DOI: https://doi.org/10.2478/v10034-010-0024-6

Parole chiaveEpilepsy, Susceptibility genes, Prioritization, Pathways and networks

This content is open access.

Parole chiave
Epilepsy, Susceptibility genes, Prioritization, Pathways and networks