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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Can certain genotypes predispose to poor asthma control in children? A pharmacogenetic study of 9 candidate genes in

Basima Almomani1, Ahmed F Hawwa, Jeffrey S Millership

  • 1Clinical and Practice Research Group, School of Pharmacy, Queen's University Belfast, Belfast, United Kingdom.

Plos One
|April 11, 2013
PubMed

Insights

Certain gene variations, including LTA4H A-9188>G, are linked to difficult childhood asthma. Genetic screening may help target therapies for better asthma control.

Area of Science:

  • Genetics
  • Pediatric Pulmonology
  • Immunology

Background:

  • Difficult asthma in children is a significant clinical challenge.
  • Identifying genetic predispositions can improve asthma management.
  • Understanding genetic factors may explain varied treatment responses.

Purpose of the Study:

  • To investigate the association between specific gene polymorphisms and difficult asthma in children.
  • To identify genetic risk factors for severe asthma exacerbations and poor control.
  • To explore the role of candidate gene polymorphisms in pediatric difficult asthma.

Main Methods:

  • Genotyping of 19 polymorphisms in 9 candidate genes.
  • Study included 180 Caucasian children with asthma, categorized as difficult (n=112) or mild/moderate (n=68).
  • Statistical analysis including single nucleotide polymorphism (SNP) and haplotype analysis.

Main Results:

  • Significant associations found between difficult asthma and LTA4H A-9188>G, TNFα G-308>A, and IL-4Rα A1727>G polymorphisms.
  • Two haplotypes (IL-4Rα ATA and TNFα CA) were significantly associated with difficult asthma.
  • The LTA4H A-9188>G polymorphism showed a strong association with severe asthma in children.

Conclusions:

  • Multiple SNPs and haplotypes in LTA4H, TNFα, and IL-4Rα genes are risk factors for difficult childhood asthma.
  • The LTA4H A-9188>G polymorphism is a novel genetic marker associated with severe pediatric asthma.
  • Genetic screening could personalize leukotriene-modifying therapies for children with difficult asthma.
Abstract

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