Functional and Practical Insights Into the Genetic Basis of Takayasu Arteritis.

ABSTRACT: Takayasu arteritis (TAK) is a rare vasculitis characterized by inflammation of large arteries. Although the exact etiology of TAK remains unclear, a genetic predisposition to the disease has been established. Large-scale genetic studies have significantly contributed to the identification of genetic variation associated with immune-mediated diseases. To date, five genome-wide association studies (GWAS) have been performed in TAK, identifying multiple genetic susceptibility loci across the genome. Here, we summarize the major findings from GWAS in TAK and provide an in silico functional evaluation of the associated loci (P < 5 × 10^-8) and variants in high linkage disequilibrium with them (r² > 0.8). By exploring gene expression and chromatin interaction data, we identi

SUBMITTER: Casares-Marfil D 

PROVIDER: S-EPMC11853729 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature