Gene –gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy

AbstractTwin and family studies have established the genetic contribution to idiopathic generalized epilepsy (IGE). The genetic architecture of IGE is generally complex and heterogeneous, and the majority of the genetic burden in IGE remains unsolved. We hypothesize that gene –gene interactions contribute to the complex inheritance of IGE.CNTN2 (OMIM* 615,400) variants have been identified in cases with familial adult myoclonic epilepsy and other epilepsies. To explore the gene –gene interaction network in IGE, we took theCNTN2 gene as an example and investigated its co-occurrent genetic variants in IGE cases. We performed whole-exome sequencing in 114 unrelated IGE cases and 296 healthy controls. Variants were qualified with sequencing quality, minor allele frequency, in silico prediction, genetic phenotype, and recurrent case numbers. The STRING_TOP25 gene interaction network analysis was introduced with the bait geneCNTN2 (denoted as A). The gene –gene interaction pair mode was presumed to be A + c, A + d, A + e, with a leading gene A, or A + B + f, A + B + g, A + B + h, with a double-gene A + B, or other combinations. We compared the number of gene interaction pairs between the case and control grou ps. We identified three pairs in the case group,CNTN2 + PTPN18,CNTN2 + CNTN1 + ANK2 + ANK3 + SNTG2, andCNTN2 + PTPRZ1, while we did not discover any pairs in the control group. The number of gene interaction...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research