Asthma genetics and personalised medicine.

Area of Science:

• Genetics and genomics
• Respiratory medicine
• Personalized medicine

Background:

• Genome-wide association studies (GWAS) have identified genetic targets in asthma pathogenesis.
• Current genetic targets explain only a small fraction of asthma's heritability.
• Asthma exhibits significant heterogeneity, necessitating improved phenotyping and consideration of distinct genetic factors for disease onset versus severity.

Purpose of the Study:

• To explore the expanding scope of asthma genetics beyond traditional GWAS.
• To investigate the role of disease heterogeneity, phenotyping, and gene-environment interactions.
• To highlight the potential of genetic scores and epigenetic approaches in understanding asthma.

Main Methods:

• Review of unbiased genetic approaches, including genome-wide association studies.
• Exploration of disease heterogeneity and advanced phenotyping strategies.
• Examination of gene-environment interactions through epigenetic studies and pharmacogenetics.

Main Results:

• Novel genetic targets for asthma have been identified, but a significant portion of heritability remains unexplained.
• Identification of genes in multiple causal pathways suggests the utility of genetic scores.
• Epigenetic approaches are effectively exploring gene-environment interactions.

Conclusions:

• Asthma genetics is a complex and evolving field, requiring a multifaceted approach.
• Integrating genetic insights with environmental factors and individual characteristics is crucial for personalized medicine.
• Pharmacogenetics demonstrates the clinical relevance of gene-environment interactions in tailoring asthma treatments.