Genetics of Behcet's Disease: Functional Genetic Analysis and Estimating Disease Heritability.

ABSTRACT: Behçet's disease is a chronic multisystemic inflammatory disorder characterized by recurrent oral and genital ulcers. Although its etiology remains unclear, it is thought that both genetic and environmental factors contribute to the onset and progression of Behçet's disease. Here, we provide an updated view of the genetic landscape and architecture of Behçet's disease. Large-scale genetic studies performed to date revealed 21 genetic susceptibility loci associated with the disease at a GWAS level of significance (p-value = 5 × 10^-8). We performed epigenetic pattern enrichment analysis in Behçet's disease associated loci, providing new insights into the molecular mechanisms underlying its pathophysiology. Our data suggest the crucial involvement of several immune cell type

SUBMITTER: Ortiz-Fernandez L 

PROVIDER: S-EPMC7907152 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature