Single‑nucleotide polymorphism rs6592645 confers asthma risk through regulating <i>LRRC32</i> expression

Asthma is a complex disease, often with evident genetic predisposition; for example, the single‑nucleotide polymorphism (SNP) rs7130588 was significantly associated asthma by genome‑wide association study (GWAS). Analysis of 1000 Genomes Project data suggests that there another SNP, rs6592645, in complete linkage disequilibrium and should present same signal GWAS. However, causal SNP mechanism between remain to be elucidated. In presents study, results from dual‑luciferase assays indicated A/G alleles failed different reporter gene expression. By contrast, A allele rs6592645 presented significant increase relative luciferase activity than G allele, thus suggesting may SNP. Using chromosome conformation capture, enhancer region containing observed interact promoter leucine‑rich repeat‑containing 32 (LRRC32). Gene expression quantification suggested LRRC32 increased lung tissue patients dependent on genotype this locus, verifying LRRC32 involved onset can regulate Through chromatin immunoprecipitation, transcription factor 3 (TCF3) identified bind surrounding interaction TCF3 investigated. Results improve our understanding which variation locus might influence susceptibility.