Genome-wide SNP analysis of the Systemic Capillary Leak Syndrome (Clarkson disease)

ABSTRACT: The Systemic Capillary Leak Syndrome (SCLS) is an extremely rare, orphan disease that resembles systemic anaphylaxis. The disorder is characterized by repeated, transient, and seemingly unprovoked episodes of hypotensive shock and peripheral edema due to transient endothelial hyperpermeability. SCLS is often accompanied by a monoclonal gammopathy of unknown significance (MGUS). Using Affymetrix Single Nucleotide Polymorphism (SNP) microarrays, we performed the first genome-wide SNP analysis of SCLS in a cohort of 12 disease subjects and 18 controls. Exome capture sequencing was performed on genomic DNA from nine of these patients as validation for the SNP-chip discoveries and de novo data generation. We identified candidate susceptibility loci for SCLS, which included a region flanking CAV

ORGANISM(S): Homo sapiens

SUBMITTER: Vijayaraj Nagarajan 

PROVIDER: E-GEOD-49045 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress