Abstract

Chronic obstructive pulmonary disease (COPD) is a major cause of morbidity and mortality across the globe. According to World Health Organization estimates, 65 million people have moderate to severe COPD. It has been responsible for changing the diseases spectrum spanning continents. Epidemiological data suggest genetics to be one of those factors, as COPD is known to aggregate in families with a stronger correlation between parents and children or siblings than between spouses. Twin and segregation studies provide evidence that genetic predisposition plays a role in COPD and had indicated that the genetic background of COPD is composed of several genes with small effects, rather than a single major gene.

Keywords: COPD; ADBR2 gene; MMP; MBL2 Gene; NAC

References

1. Pauwels RA., et al. “Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease. NHLBI/WHO Global Initiative for Chronic Obstructive Lung Disease (GOLD) Workshop summary”. American Journal of Respiratory and Critical Care Medicine 163 (2001): 1256-1276.
2. Hurd S. “Global impact of COPD”. Experimental Lung Research 31 (2005): 57-62.
3. Beck GJ., et al. “Smoking and lung function”. American Review of Respiratory Disease Returns 123 (1981): 149-155.
4. Lebowitz MD., et al. “Family aggregation of pulmonary function measurements”. American Review of Respiratory Disease Returns 129 (1984): 8-11.
5. Kauffmann F., et al. “Familial factors related to lung function in children aged 6-10 years. Results from the PAARC epidemiologic study”. American Journal of Epidemiology 129 (1989): 1289-1299.
6. Redline S. “Genetic and perinatal risk factors for the development of chronic obstructive pulmonary disease”. New York: Marcel Dekker (1990).
7. Givelber RJ., et al. “Segregation analysis of pulmonary function among families in the Framingham Study”. American Journal of Respiratory and Critical Care Medicine 157 (1998): 1445-1451.
8. Salvi Sundeep., et al. “The burden of chronic respiratory diseases and their heterogeneity across the states of India: the Global Burden of Disease Study 1990-2016”. The Lancet Global Health12 (2018): e1363-e1374.
9. ICMR-PHFI-IHME. India: Health of the Nation’s States (2017).
10. Jindal SK., et al. “A review of population studies from India to estimate national burden of chronic obstructive pulmonary disease and its association with smoking”. Indian Journal of Chest Diseases and Allied Sciences 3 (2001): 139-147.
11. Rabe KF., et al. “Effect of ADRB2 polymorphisms on the efficacy of salmeterol and tiotropium in preventing COPD exacerbations: a prespecified substudy of the POET-COPD trial”. Lancet Respiratory Medicine 2 (2014): 44-53.
12. MacNee W. “Pulmonary and systemic oxidant/antioxidant imbalance in chronic obstructive pulmonary disease”. Proceedings of the. American Thoracic Society 1 (2005): 50-60.
13. Spruit MA., et al. “An official American Thoracic Society/European Respiratory Society statement: key concepts and advances in pulmonary rehabilitation”. American Journal of Respiratory and Critical Care Medicine8 (2013): e13-e64.
14. Vestbo J., et al. “Global Strategy for the Diagnosis, Management, and Prevention of Chronic Obstructive Pulmonary Disease: GOLD executive summary”. American Journal of Respiratory and Critical Care Medicine4 (2013): 347-365.
15. Park JY., et al. “Polymorphisms for microsomal epoxide hydrolase and genetic susceptibility to COPD”. International Journal of Molecular Medicine 3 (2005): 443-448.
16. Zidzik J., et al. “Glutathione S-transferase and microsomal epoxide hydrolase gene polymorphisms and risk of chronic obstructive pulmonary disease in Slovak population”. Croat Medical Journal2 (2008): 182-191.
17. Cheng SL., et al. “Genetic polymorphism of epoxide hydrolase and glutathione S-transferase in COPD”. European Respiratory Journal 23 (2004): 818-824.
18. Matheson MC., et al. “Microsomal epoxide hydrolase is not associated with COPD in a community-based sample”. Human Biology 78 (2006): 705-717.
19. Zuin R., et al. “High-dose N-acetylcysteine in patients with exacerbations of chronic obstructive pulmonary disease”. Clinical Drug Investigation 6 (2005): 401-408.
20. Shen Y., et al. “Effect of high/low dose N-acetylcysteine on chronic obstructive pulmonary disease: a systematic review and meta-analysis”. COPD 3 (2014): 351-358.
21. Matheson MC., et al. “Beta2-adrenergic receptor polymorphisms are associated with asthma and COPD in adults”. Journal of Human Genetics 51 (2006): 943-951.
22. Thomsen M., et al. European Respiratory Journal3 (2012): 558-566.
23. Vacca G., et al. “Polymorphisms of the ß2 adrenoreceptor gene in chronic obstructive pulmonary disease”. Therapeutic Advances in Respiratory Disease (2009): 3-10.
24. Niu LM., et al. “Effect of polymorphisms in the β2-adrenergic receptor on the susceptibility and pulmonary function of patients with chronic obstructive pulmonary disease: a meta analysis”. Chinese Medical Journal 125 (2012): 2213-2218.
25. Hizawa N., et al. “Beta2-adrenergic receptor genetic polymorphisms and short-term bronchodilator responses in patients with COPD”. Chest5 (2007): 1485-1492.
26. Yang IA., et al. “Mannose-binding lectin gene polymorphism predicts hospital admissions for COPD infections”. Genes Immunity 4 (2003): 269-274.
27. Rantala A., et al. “Mannose-binding lectin concentrations, MBL2 polymorphisms, and susceptibility to respiratory tract infections in young men”. The Journal of Infectious Diseases198 (2008): 1247-1253.
28. Eagan TM., et al. “Systemic mannose-binding lectin is not associated with chronic obstructive pulmonary disease”. Respiratory Medicine 104 (2010): 283-290.
29. Hunninghake MG., et al. “MMP12, Lung Function, and COPD in High-Risk Populations”. The New England Journal of Medicine 361 (2009): 2599-2608.

Citation

Citation: Sarita Choudhary., et al. “Genetics Of Chronic Obstructive Pulmonary Diseases: A Mare’s Nest”.Acta Scientific Medical Sciences 5.10 (2021): 09-16 .

Copyright

Copyright: © 2021 Sarita Choudhary., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.