Clinical Immunology & Genetics

Asthma is a chronic obstructive pulmonary disease that affects more than 300 million individuals worldwide. With various phenotypes defining observable traits and endotypes explaining molecular pathways, the pathogenesis of asthma is highly heterogeneous. Although asthma is commonly thought to be a pulmonary disorder, recent evidence suggests that it may be a component of systemic airway disease affecting the entire respiratory tract, which is supported by the fact that asthma frequently coexists with other atopic disorders, particularly allergic rhinitis. Asthma is a chronic inflammatory illness of the conducting airways in which numerous cells of the innate and adaptive immune systems collaborate with epithelial cells to generate bronchial hyper-reactivity (BHR), mucus overproduction, airway wall remodelling, and airway constriction. This causes shortness of breath, wheezing, and chest tightness in those who are sensitive.

Asthma runs in families, and children with asthmatic parents are more likely to develop the disease. When counselling atopic families, the practitioner must be able to predict illness risk. However, given the extensive and ever-increasing knowledge regarding asthma genetics, this is not always a straightforward process. New genotyping technologies have made it possible to sequence the human genome in great detail for asthma-related variants, and as a result, the number of uncommon and common variants linked to illness risk has exploded in recent decades.