Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.

ABSTRACT: Personalized medicine approaches are increasingly sought for diseases with a heritable component. Systemic lupus erythematosus (SLE) is the prototypic autoimmune disease resulting from loss of immunologic tolerance, but the genetic basis of SLE remains incompletely understood. Genome wide association studies (GWAS) identify regions associated with disease, based on common single nucleotide polymorphisms (SNPs) within them, but these SNPs may simply be markers in linkage disequilibrium with other, causative mutations. Here we use an hierarchical screening approach for prediction and testing of true functional variants within regions identified in GWAS; this involved bioinformatic identification of putative regulatory elements within close proximity to SLE SNPs, screening those regions for p

SUBMITTER: Jones SA 

PROVIDER: S-EPMC6817816 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature