Genes, Vol. 10, Pages 663: Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease

Genes, Vol. 10, Pages 663: Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease Genes doi: 10.3390/genes10090663 Authors: Alessandro Testori Vito A. Lasorsa Flora Cimmino Sueva Cantalupo Antonella Cardinale Marianna Avitabile Giuseppe Limongelli Maria Giovanna Russo Sharon Diskin John Maris Marcella Devoto Bernard Keavney Heather J. Cordell Achille Iolascon Mario Capasso In the past years, genome wide association studies (GWAS) have provided evidence that inter-individual susceptibility to diverse pathological conditions can reveal a common genetic architecture. Through the analysis of congenital heart disease (CHD) and neuroblastoma (NB) GWAS data, we aimed to dissect the genetic susceptibility shared between these conditions, which are known to arise from neural crest cell (NCC) migration or development abnormalities, via identification and functional characterization of common regions of association. Two loci (2q35 and 3q25.32) harbor single nucleotide polymorphisms (SNPs) that are associated at a p-value < 10−3 with conotruncal malformations and ventricular septal defect respectively, as well as with NB. In addition, the lead SNP in 4p16.2 for atrial septal defect and the lead SNP in 3q25.32 for tetralogy of Fallot are less than 250 Kb distant from the lead SNPs for NB at the same genomic regions. Some of these shared susceptibility loc...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research