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A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe

Klaus Bønnelykke1, Patrick Sleiman2, Kasper Nielsen3

  • 11] Copenhagen Prospective Studies on Asthma in Childhood, Health Sciences, University of Copenhagen & Danish Pediatric Asthma Center, Copenhagen University Hospital, Gentofte, Denmark. [2] [3].

Nature Genetics
|November 19, 2013
PubMed

Insights

Severe childhood asthma exacerbations are linked to specific genetic factors. This study identified new and confirmed known asthma susceptibility genes, highlighting the importance of precise phenotyping in genetic research.

Area of Science:

  • Genetics
  • Pediatrics
  • Respiratory Medicine

Background:

  • Asthma exacerbations are a leading cause of childhood hospitalization.
  • The genetic underpinnings of severe, recurrent childhood asthma exacerbations remain largely unknown.
  • Previous genome-wide association studies (GWAS) have identified asthma susceptibility loci.

Purpose of the Study:

  • To identify novel genetic susceptibility loci for a specific asthma phenotype characterized by recurrent, severe exacerbations in early childhood.
  • To investigate the genetic architecture of severe pediatric asthma using a targeted phenotyping approach.

Main Methods:

  • A genome-wide association study (GWAS) was conducted on 1,173 cases with severe, recurrent asthma exacerbations (ages 2-6) and 2,522 controls.
  • Cases were identified using national health registries for hospitalizations.
  • DNA samples were sourced from the Danish Neonatal Screening Biobank.

Main Results:

  • Five loci demonstrated genome-wide significant association with the studied asthma phenotype.
  • Four previously identified asthma loci (GSDMB, IL33, RAD50, IL1RL1) showed larger effect sizes in this cohort compared to prior GWAS.
  • Strong evidence emerged for a novel susceptibility gene, CDHR3, highly expressed in airway epithelium.

Conclusions:

  • Specific phenotyping in genetic studies significantly enhances the discovery of asthma susceptibility genes.
  • The findings underscore the role of specific genetic factors, including CDHR3, in severe early-onset childhood asthma.
  • Larger effect sizes for known loci suggest a more specific genetic contribution in this defined asthma phenotype.

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