Abstract
Asthma runs strongly in families and has a heritability rate of up to 70%. Genetic studies offer a structured means for understanding the causes of asthma and for identifying targets of treatment for the syndrome. As with studies of other common complex diseases, genetic studies of asthma have led to considerable advances in the understanding of this disease. Genome-wide association studies have greatly advanced the identification of the most important genes predisposing individuals to asthma. Several genes act in pathways that communicate the presence of epithelial damage to the adaptive immune system; identification of these genes has provided a new focus for the development of effective therapies. However, these loci explain only a small proportion of the heritability of the disease because the phenotypic heterogeneity of asthma greatly complicates genetic analysis. A specific phenotype is likely to be more closely related to a specific pathogenetic mechanism, and focusing on a particular phenotype may increase the power of genetic studies and consequently lead to a better understanding of an endotype defined by a distinct functional or pathobiological mechanism. Genetic predisposition to the dysregulation of particular pathways may further help to define subgroups of asthma. In the end, this approach may lead to diagnosis for patients based, in part, on their genetic makeup and to new therapeutic prospects. In addition, further work is necessary to understand the biological consequences of the known susceptibility variants; the most immediate challenge in this field is the systematic analysis of the precise functions of these genes in the pathogenesis of asthma. Detailed functional dissection of the roles of these genes in asthma will point the way to new therapies for the disease.
Keywords
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Hizawa, N. (2018). Bronchial Asthma: Is Asthma Inherited?. In: Kaneko, T. (eds) Clinical Relevance of Genetic Factors in Pulmonary Diseases. Respiratory Disease Series: Diagnostic Tools and Disease Managements. Springer, Singapore. https://doi.org/10.1007/978-981-10-8144-6_3
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