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COPD: Hereditary (A1-AT) and Non-hereditary—What Are the Roles of Genetic Factors in the Pathogenesis of COPD?

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Clinical Relevance of Genetic Factors in Pulmonary Diseases

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Abstract

Although smoking is a considerable risk factor for COPD development, genetic susceptibility is believed to play a key role in the development of COPD. This is because approximately 15% of the smoking population eventually suffer from this disease, while the others sustain normal lungs despite their smoking habit. A well-known causal gene of COPD is the serine protease inhibitor A1 (SERPINA1) gene, which causes hereditary severe α1-antitrypsin (A1-AT) deficiency. After SERPINA1 was identified as causal gene for A1-AT deficiency leading to COPD, many other genes that alter the risk of non-hereditary COPD were identified. Especially, the recent development of the genome-wide association study (GWAS) is a powerful tool to identify hypothesis-free genes. Even though recent studies have revealed more than 100 genes that affect the risk of non-hereditary COPD, the impact of each gene is not very strong, and they usually change the risk of COPD with a risk ratio of between 0.7 and 1.5. Thus, identified genes can explain only a small part of the etiology of COPD. In this chapter, we will review the roles of genetic factors in the pathogenesis of hereditary and non-hereditary COPD.

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Authors and Affiliations

  1. Department of Pulmonology, Yokohama City University Graduate School of Medicine, Yokohama, Japan

    Nobuyuki Horita

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  1. Nobuyuki Horita
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  1. Yokohama City University, Yokohama, Kanagawa, Japan

    Takeshi Kaneko

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Horita, N. (2018). COPD: Hereditary (A1-AT) and Non-hereditary—What Are the Roles of Genetic Factors in the Pathogenesis of COPD?. 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_4

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  • DOI: https://doi.org/10.1007/978-981-10-8144-6_4

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-10-8143-9

  • Online ISBN: 978-981-10-8144-6

  • eBook Packages: MedicineMedicine (R0)

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