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Genetic Predisposition to COPD: Are There Any Relevant Genes Determining the Susceptibility to Smoking?

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Chronic Obstructive Pulmonary Disease

Abstract

Chronic obstructive pulmonary disease (COPD) is a complex disease with both genetic and environmental determinants, and case–control association studies on candidate genes and also genomic approaches such as genome-wide association studies (GWASs) have been used to discover genes involved in COPD pathogenesis. Though the 15q25 locus which encodes a family of nicotinic cholinergic receptors including CHRNA3 and CHRNA5 and also the other novel loci were reported to be associated with COPD susceptibility, it is uncertain through which molecular pathways the genetic variants of these genes affect the pathogenesis in a concrete manner and whether the genetic effects are on susceptibility to smoking behavior and/or to lung destruction as emphysematous change of the lungs induced by smoking. Recent studies showed the functional genetic variations related to COPD pathogenesis by using two different types of omics data, such as GWAS and gene expression profiling in the lungs. A recent study with more than 50,000 individuals of European ancestry in the United Kingdom investigated the genes associated with COPD and reported the genes related to nicotine addiction, impaired lung development, and accelerated lung function decline, respectively. The genetic variations associated with COPD exacerbations and the ethnic difference of COPD pathogenesis also should be elucidated.

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Authors and Affiliations

  1. Department of Pulmonary Medicine and Oncology, Graduate School of Medicine, Nippon Medical School, 4-7-15-8 F Kudan-Minami, Chiyoda, Tokyo, 102-0074, Japan

    Takeo Ishii M.D., Ph.D.

  2. Comprehensive Medicine 1, Saitama Medical Center, Jichi Medical University, Saitama, Japan

    Koichi Hagiwara

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  1. Takeo Ishii M.D., Ph.D.
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  2. Koichi Hagiwara
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Correspondence to Takeo Ishii M.D., Ph.D. .

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  1. Department of Respiratory Medicine, Tokyo Medical University Ibaraki Medical Center, Ibaraki, Japan

    Hiroyuki Nakamura

  2. Department of Respiratory Medicine, Tokyo Medical University Ibaraki Medical Center, Ibaraki, Japan

    Kazutetsu Aoshiba

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Ishii, T., Hagiwara, K. (2017). Genetic Predisposition to COPD: Are There Any Relevant Genes Determining the Susceptibility to Smoking?. In: Nakamura, H., Aoshiba, K. (eds) Chronic Obstructive Pulmonary Disease. Respiratory Disease Series: Diagnostic Tools and Disease Managements. Springer, Singapore. https://doi.org/10.1007/978-981-10-0839-9_3

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  • DOI: https://doi.org/10.1007/978-981-10-0839-9_3

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