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Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Genome-wide association study of inhaled corticosteroid response in admixed children with asthma

Natalia Hernandez-Pacheco1,2, Niloufar Farzan3,4, Ben Francis5

  • 1Research Unit, Hospital Universitario N.S. de Candelaria, Universidad de La Laguna, San Cristóbal de La Laguna, Spain.

Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology
|January 31, 2019
PubMed

Insights

This study identified new genetic variants, including APOBEC3B and APOBEC3C, linked to asthma exacerbations in children treated with inhaled corticosteroids (ICS). These findings help understand genetic factors influencing ICS treatment response.

Area of Science:

  • Pharmacogenomics
  • Asthma Genetics
  • Pediatric Pulmonology

Background:

  • Inhaled corticosteroids (ICS) are primary asthma control medications.
  • Many children, especially in admixed populations, experience exacerbations despite ICS treatment.
  • Genetic factors significantly influence response to ICS.

Purpose of the Study:

  • Identify genetic variants associated with asthma exacerbations in admixed children on ICS.
  • Validate previous genome-wide association study (GWAS) findings in this population.

Main Methods:

  • Meta-analysis of two GWAS in 1347 admixed children (Hispanic/Latino, African American) treated with ICS.
  • Analysis of 8.7 million genetic variants.
  • Replication in 1697 European asthmatic patients and admixed populations for previously identified GWAS associations.

Main Results:

  • 15 independent variants suggestively associated with asthma exacerbations (P ≤ 5 × 10⁻⁶).
  • One variant near APOBEC3B/APOBEC3C replicated in Europeans and linked to lung function changes with ICS (rs5995653).
  • L3MBTL4-ARHGAP28 genomic region association confirmed in admixed populations.

Conclusions:

  • Novel association of APOBEC3B and APOBEC3C with ICS-treated asthma exacerbations in children.
  • Replication of previously identified genomic regions highlights their role in ICS response.
  • Findings contribute to identifying non-responders to ICS treatment through genetic markers.
Abstract

Keywords:
African AmericanLatinochildhood asthmaexacerbationspharmacogenomics

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