COPD (chronic obstructive pulmonary disease) is characterized by irreversible lung airflow obstruction. Cigarette smoke is the major risk factor for COPD development. However, only a minority number of smokers develop COPD, and there are substantial variations in lung function among smokers, suggesting that genetic determinants in COPD susceptibility. During the past decade, genome-wide association studies and exome sequencing have been instrumental to identify the genetic determinants of complex traits, including COPD. Focused studies have revealed mechanisms by which genetic variants contribute to COPD and have led to novel insights in COPD pathogenesis. Through functional investigations of causal variants in COPD, from the proteinase–antiproteinase theory to emerging roles of developmental pathways (such as Hedgehog and Wnt pathways) in COPD, we have greatly expanded our understanding on this complex pulmonary disease. In this review, we critically review functional investigations on roles of genetic polymorphisms in COPD, and discuss future challenges and opportunities in discovering novel mechanisms of functional variants.
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December 2017
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Wheat germ agglutinin staining of the adult mouse heart transverse section. In their study, Diniz et al., shows microRNA-22 regulates dyslipidemia and energy expenditure. For more information please see pages 2885-2900. Image kindly provided by Da-Zhi Wang
Review Article|
December 04 2017
What do polymorphisms tell us about the mechanisms of COPD?
Yan Li;
Yan Li
1Channing Division of Network Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, U.S.A.
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Michael H. Cho;
Michael H. Cho
1Channing Division of Network Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, U.S.A.
2Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, U.S.A.
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Xiaobo Zhou
1Channing Division of Network Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, U.S.A.
2Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, U.S.A.
Correspondence: Xiaobo Zhou ([email protected])
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Publisher: Portland Press Ltd
Received:
May 12 2017
Revision Received:
October 22 2017
Accepted:
November 01 2017
Online ISSN: 1470-8736
Print ISSN: 0143-5221
© 2017 The Author(s). Published by Portland Press Limited on behalf of the Biochemical Society
2017
Clin Sci (Lond) (2017) 131 (24): 2847–2863.
Article history
Received:
May 12 2017
Revision Received:
October 22 2017
Accepted:
November 01 2017
Citation
Yan Li, Michael H. Cho, Xiaobo Zhou; What do polymorphisms tell us about the mechanisms of COPD?. Clin Sci (Lond) 15 December 2017; 131 (24): 2847–2863. doi: https://doi.org/10.1042/CS20160718
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