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Genetics and Genomics of Chronic Inflammatory Disorders, III: Bronchial Asthma 

Genetics and Genomics of Chronic Inflammatory Disorders, III: Bronchial Asthma
Chapter:
Genetics and Genomics of Chronic Inflammatory Disorders, III: Bronchial Asthma
Author(s):

William Cookson

DOI:
10.1093/med/9780199896028.003.0030
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date: 30 October 2020

Asthma runs strongly in families and has a heritability (variance attributable to genetics) of up to 60%. Genetic studies therefore offer a structured means of understanding the causes of asthma as well as identifying targets for treating the syndrome. As with other common complex diseases, large-scale genetic studies have led to considerable advances in the understanding of asthma. In general, robust genetic effects have been identified that carry substantial population attributable risks. Several genes act in pathways that communicate the presence of epithelial damage to the adaptive immune system, providing a new focus for effective therapies. Genetic findings have also led to a reassessment of the primacy of atopy in both asthma and eczema (atopic dermatitis), suggesting that atopy is secondary to epithelial or other events in both diseases. Despite these advances, only a small component of the overall genetic contribution to asthma has been identified. This missing heritability may be due to multiple small effects (polygenes) or rare highly penetrant mutations, or epigenetic modifications of gene function.

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