Interaction between retinoid acid receptor-related orphan receptor alpha (RORA) and neuropeptide S receptor 1 (NPSR1) in asthma

PLoS One. 2013;8(4):e60111. doi: 10.1371/journal.pone.0060111. Epub 2013 Apr 2.

Abstract

Retinoid acid receptor-related Orphan Receptor Alpha (RORA) was recently identified as a susceptibility gene for asthma in a genome-wide association study. To investigate the impact of RORA on asthma susceptibility, we performed a genetic association study between RORA single nucleotide polymorphisms (SNPs) in the vicinity of the asthma-associated SNP (rs11071559) and asthma-related traits. Because the regulatory region of a previously implicated asthma susceptibility gene, Neuropeptide S receptor 1 (NPSR1), has predicted elements for RORA binding, we hypothesized that RORA may interact biologically and genetically with NPSR1. 37 RORA SNPs and eight NPSR1 SNPs were genotyped in the Swedish birth cohort BAMSE (2033 children) and the European cross-sectional PARSIFAL study (1120 children). Seven RORA SNPs confined into a 49 kb region were significantly associated with physician-diagnosed childhood asthma. The most significant association with rs7164773 (T/C) was driven by the CC genotype in asthma cases (OR = 2.0, 95%CI 1.36-2.93, p = 0.0003 in BAMSE; and 1.61, 1.18-2.19, p = 0.002 in the combined BAMSE-PARSIFAL datasets, respectively), and strikingly, the risk effect was dependent on the Gln344Arg mutation in NPSR1. In cell models, stimulation of NPSR1 activated a pathway including RORA and other circadian clock genes. Over-expression of RORA decreased NPSR1 promoter activity further suggesting a regulatory loop between these genes. In addition, Rora mRNA expression was lower in the lung tissue of Npsr1 deficient mice compared to wildtype littermates during the early hours of the light period. We conclude that RORA SNPs are associated with childhood asthma and show epistasis with NPSR1, and the interaction between RORA and NPSR1 may be of biological relevance. Combinations of common susceptibility alleles and less common functional polymorphisms may modify the joint risk effects on asthma susceptibility.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Animals
  • Asthma / genetics*
  • Case-Control Studies
  • Cell Line
  • Child
  • Child, Preschool
  • Circadian Clocks / genetics
  • Epistasis, Genetic*
  • Gene Expression Regulation / drug effects
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Hypersensitivity, Immediate / genetics
  • Linkage Disequilibrium
  • Lung / metabolism
  • Lung / pathology
  • Male
  • Mice
  • Mice, Knockout
  • Neuropeptides / pharmacology
  • Nuclear Receptor Subfamily 1, Group F, Member 1 / genetics*
  • Nuclear Receptor Subfamily 1, Group F, Member 1 / metabolism
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • RNA, Messenger / genetics
  • Receptors, G-Protein-Coupled / genetics*

Substances

  • NPSR1 protein, human
  • Neuropeptides
  • Nuclear Receptor Subfamily 1, Group F, Member 1
  • RNA, Messenger
  • Receptors, G-Protein-Coupled
  • neuropeptide S, human

Grants and funding

This work was supported by the European Union; the Swedish Research Council; Swedish Foundation for Strategic Research [RBc08-0027]; the Stockholm County Council; the Swedish Heart and Lung Foundation; Sigrid Jusélius Foundation and the Academy of Finland [126701]. VP is supported by the Research Funds of the University of Helsinki; Orion-Farmos Research Foundation; Paulo Foundation; the Finnish Anti-tuberculosis Association Foundation and the Väinö and Laina Kivi Foundation. NA was supported by a PhD-grant from Karolinska Institutet. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.