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Pharmacogenetics of Pediatric Asthma: Current Perspectives
Javier Perez-Garcia1, Antonio Espuela-Ortiz1, Fabian Lorenzo-Diaz1,2
1Genomics and Health Group, Department of Biochemistry, Microbiology, Cell Biology and Genetics, Universidad de La Laguna, San Cristóbal de La Laguna, Santa Cruz de Tenerife, Spain.
Insights
Genetic variations influence how children with asthma respond to medications. Recent studies confirm known gene associations and identify new ones, paving the way for personalized asthma treatment. Further research is needed for clinical application.
Area of Science:
- Pharmacogenetics
- Pediatric Respiratory Medicine
- Genomics
Background:
- Asthma affects millions globally, with significant impact on children.
- Pharmacological treatments exist but are ineffective for some pediatric asthma patients.
- Genetic variations play a role in individual responses to asthma therapies.
Purpose of the Study:
- To review pharmacogenetic studies on pediatric asthma treatment response published between 2018 and 2019.
- To update findings on gene associations with medication effectiveness in childhood asthma.
Main Methods:
- Systematic review of candidate-gene studies, meta-analyses, and pharmacogenomic studies.
- Analysis of genetic variations related to short-acting beta-agonists and inhaled corticosteroids response.
Main Results:
- Validated associations for genes like ADRB2, GSDMB, and VEGFA.
- Identified novel gene associations including PRKG1, DNAH5, and IL1RL1.
- Highlighted inconsistencies across studies, emphasizing the need for larger, diverse population research.
Conclusions:
- Genetic variants show promise as biomarkers for pediatric asthma treatment response.
- Further research is required to establish robust evidence for clinical application.
- Personalized medicine approaches can potentially improve asthma management and patient quality of life.
Abstract:
Asthma is a chronic respiratory disease that affects 339 million people worldwide and has a considerable impact on the pediatric population. Asthma symptoms can be controlled by pharmacological treatment. However, some patients do not respond to therapy and continue suffering from symptoms, which impair the quality of life of patients and limit their daily activity. Genetic variation has been shown to have a role in treatment response. The aim of this review is to update the main findings described in pharmacogenetic studies of pediatric asthma published from January 1, 2018 to December 31, 2019. During this period, the response to short-acting beta-agonists and inhaled corticosteroids in childhood asthma has been evaluated by eleven candidate-gene studies, one meta-analysis of a candidate gene, and six pharmacogenomic studies. The findings have allowed validating the association of genes previously related to asthma treatment response (ADRB2, GSDMB, FCER2, VEGFA, SPAT2SL, ASB3, and COL2A1), and identifying novel associations (PRKG1, DNAH5, IL1RL1, CRISPLD2, MMP9, APOBEC3B-APOBEC3C, EDDM3B, and BBS9). However, some results are not consistent across studies, highlighting the need to conduct larger studies in diverse populations with more homogeneous definitions of treatment response. Once stronger evidence was established, genetic variants will have the potential to be applied in clinical practice as biomarkers of treatment response enhancing asthma management and improving the quality of life of asthma patients.
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