Novel genes and insights in complete asthma remission: A genome-wide association study on clinical and complete asthma remission.

摘要: BackgroundAsthma is a chronic respiratory disease without cure, although there exists spontaneous remission. Genome-wide association (GWA) studies have pinpointed genes associated with asthma development, but did not investigate ObjectiveWe performed GWA study to develop insights in MethodsClinical remission (ClinR) was defined by the absence of treatment and wheezing last year attacks 3years complete (ComR) similarly additionally normal lung function bronchial hyperresponsiveness (BHR). A on both ClinR ComR 790 asthmatics initial doctor diagnosis BHR long-term follow-up. We assessed replication 25 top single nucleotide polymorphisms (SNPs) 2 independent cohorts (total n=456), followed expression quantitative loci (eQTL) analyses 4 replicated SNPs tissue epithelium. ResultsOf asthmatics, 178 (23%) had 55 (7%) after median follow-up 15.5 (range 3.3-47.8) years. In ClinR, 1 SNPs, rs2740102, meta-analysis cohorts, which an eQTL for POLI tissue. ComR, 3 cohorts. The top-hit, rs6581895, almost reached genome-wide significance (P-value 4.68x10(-7)) FRS2 CCT Rs1420101 cis-eQTL IL1RL1 IL18R1 trans-eQTL IL13. Conclusions Clinical RelevanceBy defining strict phenotype, we identified be remission, where plausible biological relevance FRS2, CCT, IL1RL1,